<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Li, Man</style></author><author><style face="normal" font="default" size="100%">Li, Yong</style></author><author><style face="normal" font="default" size="100%">Weeks, Olivia</style></author><author><style face="normal" font="default" size="100%">Mijatovic, Vladan</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Tromp, Gerard</style></author><author><style face="normal" font="default" size="100%">Fuchsberger, Christian</style></author><author><style face="normal" font="default" size="100%">Gorski, Mathias</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Sedaghat, Sanaz</style></author><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Tin, Adrienne</style></author><author><style face="normal" font="default" size="100%">Yang, Qiong</style></author><author><style face="normal" font="default" size="100%">Ahluwalia, Tarunveer S</style></author><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Bihlmeyer, Nathan A</style></author><author><style face="normal" font="default" size="100%">Böger, Carsten A</style></author><author><style face="normal" font="default" size="100%">Carroll, Robert J</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Cornelis, Marilyn C</style></author><author><style face="normal" font="default" size="100%">Dehghan, Abbas</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Gambaro, Giovanni</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Giulianini, Franco</style></author><author><style face="normal" font="default" size="100%">Heid, Iris</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Imboden, Medea</style></author><author><style face="normal" font="default" size="100%">Jackson, Anne U</style></author><author><style face="normal" font="default" size="100%">Jeff, Janina</style></author><author><style face="normal" font="default" size="100%">Jhun, Min A</style></author><author><style face="normal" font="default" size="100%">Katz, Ronit</style></author><author><style face="normal" font="default" size="100%">Kifley, Annette</style></author><author><style face="normal" font="default" size="100%">Kilpeläinen, Tuomas O</style></author><author><style face="normal" font="default" size="100%">Kumar, Ashish</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Li-Gao, Ruifang</style></author><author><style face="normal" font="default" size="100%">Lohman, Kurt</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Malerba, Giovanni</style></author><author><style face="normal" font="default" size="100%">Mihailov, Evelin</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Ruderfer, Douglas</style></author><author><style face="normal" font="default" size="100%">Salvi, Erika</style></author><author><style face="normal" font="default" size="100%">Schick, Ursula M</style></author><author><style face="normal" font="default" size="100%">Schulz, Christina-Alexandra</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Goodarzi, Mark O</style></author><author><style face="normal" font="default" size="100%">Kraja, Aldi T</style></author><author><style face="normal" font="default" size="100%">Liu, Chunyu</style></author><author><style face="normal" font="default" size="100%">Wessel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Bork-Jensen, Jette</style></author><author><style face="normal" font="default" size="100%">Bottinger, Erwin P</style></author><author><style face="normal" font="default" size="100%">Braga, Daniele</style></author><author><style face="normal" font="default" size="100%">Brandslund, Ivan</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Carey, David J</style></author><author><style face="normal" font="default" size="100%">Christensen, Cramer</style></author><author><style face="normal" font="default" size="100%">Coresh, Josef</style></author><author><style face="normal" font="default" size="100%">Crook, Errol</style></author><author><style face="normal" font="default" size="100%">Curhan, Gary C</style></author><author><style face="normal" font="default" size="100%">Cusi, Daniele</style></author><author><style face="normal" font="default" size="100%">de Boer, Ian H</style></author><author><style face="normal" font="default" size="100%">de Vries, Aiko P J</style></author><author><style face="normal" font="default" size="100%">Denny, Joshua C</style></author><author><style face="normal" font="default" size="100%">Devuyst, Olivier</style></author><author><style face="normal" font="default" size="100%">Dreisbach, Albert W</style></author><author><style face="normal" font="default" size="100%">Endlich, Karlhans</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Fulop, Tibor</style></author><author><style face="normal" font="default" size="100%">Gerhard, Glenn S</style></author><author><style face="normal" font="default" size="100%">Glümer, Charlotte</style></author><author><style face="normal" font="default" size="100%">Gottesman, Omri</style></author><author><style face="normal" font="default" size="100%">Grarup, Niels</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Hansen, Torben</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Hu, Frank B</style></author><author><style face="normal" font="default" size="100%">Husemoen, Lise Lotte N</style></author><author><style face="normal" font="default" size="100%">Jackson, Rebecca D</style></author><author><style face="normal" font="default" size="100%">Jørgensen, Torben</style></author><author><style face="normal" font="default" size="100%">Jørgensen, Marit E</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">König, Wolfgang</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style face="normal" font="default" size="100%">Kriebel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Lauritzen, Torsten</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Levy, Daniel</style></author><author><style face="normal" font="default" size="100%">Linksted, Pamela</style></author><author><style face="normal" font="default" size="100%">Linneberg, Allan</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Lupo, Antonio</style></author><author><style face="normal" font="default" size="100%">Meisinger, Christine</style></author><author><style face="normal" font="default" size="100%">Melander, Olle</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Mitchell, Paul</style></author><author><style face="normal" font="default" size="100%">Nauck, Matthias</style></author><author><style face="normal" font="default" size="100%">Nürnberg, Peter</style></author><author><style face="normal" font="default" size="100%">Orho-Melander, Marju</style></author><author><style face="normal" font="default" size="100%">Parsa, Afshin</style></author><author><style face="normal" font="default" size="100%">Pedersen, Oluf</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Peters, Ulrike</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Porteous, David</style></author><author><style face="normal" font="default" size="100%">Probst-Hensch, Nicole M</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Qi, Lu</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Reiner, Alex P</style></author><author><style face="normal" font="default" size="100%">Rettig, Rainer</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Rossouw, Jacques E</style></author><author><style face="normal" font="default" size="100%">Schmidt, Frank</style></author><author><style face="normal" font="default" size="100%">Siscovick, David</style></author><author><style face="normal" font="default" size="100%">Soranzo, Nicole</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Turner, Stephen T</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Velayutham, Dinesh</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Wang, Jie Jin</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Witte, Daniel</style></author><author><style face="normal" font="default" size="100%">Kuivaniemi, Helena</style></author><author><style face="normal" font="default" size="100%">Fox, Caroline S</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">Goessling, Wolfram</style></author><author><style face="normal" font="default" size="100%">Köttgen, Anna</style></author><author><style face="normal" font="default" size="100%">Chu, Audrey Y</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CHARGE Glycemic-T2D Working Group,</style></author><author><style face="normal" font="default" size="100%">CHARGE Blood Pressure Working Group,</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%"> and  Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.</style></title><secondary-title><style face="normal" font="default" size="100%">J Am Soc Nephrol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Am. Soc. Nephrol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Glomerular Filtration Rate</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Kidney</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Tyrosine Phosphatases</style></keyword><keyword><style  face="normal" font="default" size="100%">Proto-Oncogene Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Son of Sevenless Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Zebrafish</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Mar</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">28</style></volume><pages><style face="normal" font="default" size="100%">981-994</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Genome-wide association studies have identified &gt;50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (: 111,666; : 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (, , and ; &lt;3.7×10), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene,  (=5.4×10 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of  and -knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27920155?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Mezzavilla, Massimo</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Bianca, Martina La</style></author><author><style face="normal" font="default" size="100%">Carlino, Davide</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Analysis of functional variants reveals new candidate genes associated with alexithymia.</style></title><secondary-title><style face="normal" font="default" size="100%">Psychiatry Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Psychiatry Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Affective Symptoms</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA-Binding Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Emotions</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">P-Glycoproteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Personality Inventory</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Tumor Suppressor Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Jun 30</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">227</style></volume><pages><style face="normal" font="default" size="100%">363-5</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;In this study we explored the possible association between 36,915 functional variants and alexithymia, a personality trait characterized by the inability to identify and describe emotions and feelings. From our analysis, variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2-3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25882097?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Cenedese, Valentina</style></author><author><style face="normal" font="default" size="100%">Mezzavilla, Massimo</style></author><author><style face="normal" font="default" size="100%">Morgan, Anna</style></author><author><style face="normal" font="default" size="100%">Marino, Renato</style></author><author><style face="normal" font="default" size="100%">Ettorre, Cosimo Pietro</style></author><author><style face="normal" font="default" size="100%">Margaglione, Maurizio</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Menini, Anna</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2.</style></title><secondary-title><style face="normal" font="default" size="100%">PLoS One</style></secondary-title><alt-title><style face="normal" font="default" size="100%">PLoS ONE</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Olfactory Mucosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Olfactory Perception</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Smell</style></keyword><keyword><style  face="normal" font="default" size="100%">von Willebrand Disease, Type 3</style></keyword><keyword><style  face="normal" font="default" size="100%">von Willebrand Factor</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">10</style></volume><pages><style face="normal" font="default" size="100%">e0116483</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Type 3 Von Willebrand disease is an autosomal recessive disease caused by the virtual absence of the von Willebrand factor (VWF). A rare 253 kb gene deletion on chromosome 12, identified only in Italian and German families, involves both the VWF gene and the N-terminus of the neighbouring TMEM16B/ANO2 gene, a member of the family named transmembrane 16 (TMEM16) or anoctamin (ANO). TMEM16B is a calcium-activated chloride channel expressed in the olfactory epithelium. As a patient homozygous for the 253 kb deletion has been reported to have an olfactory impairment possibly related to the partial deletion of TMEM16B, we assessed the olfactory function in other patients using the University of Pennsylvania Smell Identification Test (UPSIT). The average UPSIT score of 4 homozygous patients was significantly lower than that of 5 healthy subjects with similar sex, age and education. However, 4 other members of the same family, 3 heterozygous for the deletion and 1 wild type, had a slightly reduced olfactory function indicating that socio-cultural or other factors were likely to be responsible for the observed difference. These results show that the ability to identify odorants of the homozygous patients for the deletion was not significantly different from that of the other members of the family, showing that the 253 kb deletion does not affect the olfactory performance. As other genes may compensate for the lack of TMEM16B, we identified some predicted functional partners from in silico studies of the protein-protein network of TMEM16B. Calculation of diversity for the corresponding genes for individuals of the 1000 Genomes Project showed that TMEM16B has the highest level of diversity among all genes of the network, indicating that TMEM16B may not be under purifying selection and suggesting that other genes in the network could compensate for its function for olfactory ability.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25635880?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pirastu, Nicola</style></author><author><style face="normal" font="default" size="100%">Kooyman, Maarten</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Willems, Sara M</style></author><author><style face="normal" font="default" size="100%">Pistis, Giorgio</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Pio</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">D'Eustacchio, Angela</style></author><author><style face="normal" font="default" size="100%">Navarini, Luciano</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Karssen, Lennart C</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.</style></title><secondary-title><style face="normal" font="default" size="100%">PLoS One</style></secondary-title><alt-title><style face="normal" font="default" size="100%">PLoS ONE</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Coffee</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, G-Protein-Coupled</style></keyword><keyword><style  face="normal" font="default" size="100%">Taste</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">e92065</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Coffee, one of the most popular beverages in the world, contains many different physiologically active compounds with a potential impact on people's health. Despite the recent attention given to the genetic basis of its consumption, very little has been done in understanding genes influencing coffee preference among different individuals. Given its markedly bitter taste, we decided to verify if bitter receptor genes (TAS2Rs) variants affect coffee liking. In this light, 4066 people from different parts of Europe and Central Asia filled in a field questionnaire on coffee liking. They have been consequently recruited and included in the study. Eighty-eight SNPs covering the 25 TAS2R genes were selected from the available imputed ones and used to run association analysis for coffee liking. A significant association was detected with three SNP: one synonymous and two functional variants (W35S and H212R) on the TAS2R43 gene. Both variants have been shown to greatly reduce in vitro protein activity. Surprisingly the wild type allele, which corresponds to the functional form of the protein, is associated to higher liking of coffee. Since the hTAS2R43 receptor is sensible to caffeine, we verified if the detected variants produced differences in caffeine bitter perception on a subsample of people coming from the FVG cohort. We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant. No other significant association was found with other TAS2R genes. In conclusion, the present study opens new perspectives in the understanding of coffee liking. Further studies are needed to clarify the role of the TAS2R43 gene in coffee hedonics and to identify which other genes and pathways are involved in its genetics.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24647340?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Faletra, Flavio</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Adamo P</style></author><author><style face="normal" font="default" size="100%">Bruno, Irene</style></author><author><style face="normal" font="default" size="100%">Athanasakis, Emmanouil</style></author><author><style face="normal" font="default" size="100%">Biskup, Saskia</style></author><author><style face="normal" font="default" size="100%">Esposito, Laura</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Med. Genet. A</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Arthritis</style></keyword><keyword><style  face="normal" font="default" size="100%">Bone and Bones</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Collagen Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Collagen Type IX</style></keyword><keyword><style  face="normal" font="default" size="100%">Connective Tissue Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Mutational Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Facies</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Recessive</style></keyword><keyword><style  face="normal" font="default" size="100%">Hearing Loss</style></keyword><keyword><style  face="normal" font="default" size="100%">Hearing Loss, Sensorineural</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinal Detachment</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Jan</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">164A</style></volume><pages><style face="normal" font="default" size="100%">42-7</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24273071?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Bione, Silvia</style></author><author><style face="normal" font="default" size="100%">Sansanelli, Serena</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Athanasakis, Emmanouil</style></author><author><style face="normal" font="default" size="100%">Lanzara, Carmela</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Camaschella, Clara</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Pio</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Ciullo, Marina</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Multigene Family</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Nicotinic</style></keyword><keyword><style  face="normal" font="default" size="100%">Smoking</style></keyword><keyword><style  face="normal" font="default" size="100%">Tobacco Use Disorder</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">19</style></volume><pages><style face="normal" font="default" size="100%">593-6</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Large-scale population studies have established that genetic factors contribute to individual differences in smoking behavior. Linkage and genome-wide association studies have shown many chromosomal regions and genes associated with different smoking behaviors. One study was the association of single-nucleotide polymorphisms (SNPs) in the CHRNA5-A3-B4 gene cluster to nicotine addiction. Here, we report a replication of this association in the Italian population represented by three genetically isolated populations. One, the Val Borbera, is a genetic isolate from North-Western Italy; the Cilento population, is located in South-Western Italy; and the Carlantino village is located in South-Eastern Italy. Owing to their position and their isolation, the three populations have a different environment, different history and genetic structure. The variant A of the rs1051730 SNP was significantly associated with smoking quantity in two populations, Val Borbera and Cilento, no association was found in Carlantino population probably because difference in LD pattern in the variant region.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21248747?dopt=Abstract</style></custom1></record></records></xml>