@article {7774, title = {Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.}, journal = {Pediatr Rheumatol Online J}, volume = {13}, year = {2015}, month = {2015}, pages = {11}, abstract = {

BACKGROUND: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS.

METHODS: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results.

RESULTS: None of 42 patients analyzed displayed a causative genotype. However, single or multiple genetic variants of uncertain significance were detected in 24 subjects. Only in 5 subjects a definite diagnosis was made by taking into account both genetic and clinical data (2 TRAPS syndrome; 2 FMF; 1 FCAS). Statistical analysis showed that patients carrying genetic variants in one or more of the five selected genes displayed a significantly lower response to glucocorticoids compared with subjects who had completely negative genetic results.

CONCLUSIONS: The sequencing of multiple genes is of little help in the diagnostics of PFS and can often lead to results of uncertain interpretation, thus the clinically driven sequencing of single genes should remain the recommended approach. However, the presence of single or multiple genetic variants of uncertain significance, even if not allowing any specific diagnosis, correlated with a poorer response to glucocorticoids, possibly indicating a multifactorial subgroup of PFS with differential response to pharmacological treatment.

}, keywords = {Adolescent, Carrier Proteins, Child, Cryopyrin-Associated Periodic Syndromes, Cytoskeletal Proteins, Familial Mediterranean Fever, Female, Fever, Gene Expression Profiling, Genotype, Hereditary Autoinflammatory Diseases, Humans, Intracellular Signaling Peptides and Proteins, Logistic Models, Male, Mutation, Phosphotransferases (Alcohol Group Acceptor), Prospective Studies, Receptors, Tumor Necrosis Factor, Type I, Syndrome}, issn = {1546-0096}, doi = {10.1186/s12969-015-0006-z}, author = {De Pieri, Carlo and Vuch, Josef and De Martino, Eleonora and Bianco, Anna M and Ronfani, Luca and Athanasakis, Emmanouil and Bortot, Barbara and Crovella, Sergio and Taddio, Andrea and Severini, Giovanni M and Tommasini, Alberto} } @article {1960, title = {Genetics of food preferences: a first view from silk road populations.}, journal = {J Food Sci}, volume = {77}, year = {2012}, month = {2012 Dec}, pages = {S413-8}, abstract = {

Food preferences are the main factor driving food intake and choice. There are good reasons to suspect some genetic influence on food acceptance, not least because genetic factors are implicated in a number of factors that are likely to be related to food choice. In addition, some food dislikes show themselves early in life, before there is any evidence for aversive experiences. Although taste has been widely studied in regards of pure tastes such as bitter or sweet perception, the relationship between taste-related genes and food preferences has seldom been explored. In this work we investigated relationship of 37 taste-related genes with food preferences. The study was carried out during a scientific expedition through Caucasus and Central Asia (Silk Road) analyzing more than 400 samples from 5 different countries. A food preference questionnaire was administered to each participant and a DNA sample was obtained. Other information, such as age, sex, life style and anthropometrical measures, were also collected. We found significant associations with variants of: (1) TAS1R2 [Correction added after initial online publication on 27 Aug 2012. TAS1R3 was changed to TAS1R2.] gene and liking of Vodka (P= 1.6 {\texttimes} 10(-3)), white wine (P= 4.0 {\texttimes} 10(-4)) and lamb meat (P= 1.6 {\texttimes} 10(-3)); (2) PCLB2 gene and preference for Hot Tea (P= 8.0 {\texttimes} 10(-4)); (3) TPRV1 gene and beet liking (P= 3.8 {\texttimes} 10(-5)); and (4) ITPR3 gene and liking of both lamb meat (5.8 {\texttimes} 10(-4)) and sheep cheese (8.9{\texttimes}10(-4)). These findings give a new insight on a better understanding, of genetic factors influencing food preferences which is critical to the development of effective dietary interventions, especially for people that may be genetically not predisposed for liking specific nutrients.

}, keywords = {Adolescent, Adult, Aged, Aged, 80 and over, Azerbaijan, Child, Choice Behavior, Cohort Studies, Female, Food Habits, Food Preferences, Gene Frequency, Genotype, Georgia, Humans, Kazakhstan, Linear Models, Male, Middle Aged, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Questionnaires, Tajikistan, Taste, Uzbekistan, Young Adult}, issn = {1750-3841}, doi = {10.1111/j.1750-3841.2012.02852.x}, author = {Pirastu, Nicola and Robino, Antonietta and Lanzara, Carmela and Athanasakis, Emmanouil and Esposito, Laura and Tepper, Beverly J and Gasparini, Paolo} }