@article {10506, title = {Polymorphisms in key bone modulator cytokines genes influence bisphosphonates therapy in postmenopausal women.}, journal = {Inflammopharmacology}, volume = {25}, year = {2017}, month = {2017 Apr}, pages = {191-201}, abstract = {

Osteoporosis is a multifactorial and debilitating disease resulting from decreased bone mineral density (BMD) and loss of tissue microarchitecture. Ineffective therapies may lead to bone fractures and subsequent death. Single nucleotide polymorphisms (SNPs) in key immune regulator genes have been associated with therapeutic response to bisphosphonates, which are the first therapeutic line of choice for osteoporosis. However, cytokine pathways and their relation with therapeutic adhesion remain to be fully elucidated. Aimed at better understanding these processes, we investigated the response to bisphosphonate therapy in postmenopausal women and four SNPs in key proinflammatory cytokines genes: IL23R +2284 (C>A) (rs10889677), IL17A +672 (G>A) (rs7747909), IL12B +1188 (T>G) (rs3212227) and INF-γ -1616 (G>A) (rs2069705). A total of 69 patients treated with bisphosphonate were followed for a period of 1 up to 4~years, genotyped and compared according to their changes in bone mineral density (BMD) and level of biochemical markers during their treatment. The INF-γ -1616 G/G associated with increased BMD values in femoral neck (GG/AA, p~=~0.016) and decreased BMD values in total hip (GG/GA, p~=~0.019; GG/AA, p~=~0.011). In relation to biochemical markers, INF-γ -1616 SNP associated with increased alkaline phosphatase (GG/AA; p~<~0.0001) and parathyroid hormone levels (AA/GA; p~=~0.017). Vitamin D values changes were related to IL17A +672 (GG/GA, p~=~0.034) and to IL12B +1188 (TT/TG, p~=~0.046) SNPs. Besides, significant differences in changes of calcium levels correlated with IL23R +2284 (CC/CA, p~=~0.016) genotypes. Altogether, we suggest that these polymorphisms may play an important role for therapeutic decisions in osteoporosis treatment.

}, keywords = {Aged, Bone Density, Bone Remodeling, Cytokines, Diphosphonates, Female, Humans, Middle Aged, Osteoporosis, Postmenopausal, Polymorphism, Single Nucleotide, Postmenopause}, issn = {1568-5608}, doi = {10.1007/s10787-017-0322-7}, author = {Lima, C A D and Javorski, N R and Souza, A P O and Barbosa, A D and Valen{\c c}a, A P M C and Crovella, S and Souza, P R E and de Azev{\^e}do Silva, J and Sandrin-Garcia, P} } @article {8487, title = {Role of inflammasome genetics in susceptibility to HPV infection and cervical cancer development.}, journal = {J Med Virol}, volume = {88}, year = {2016}, month = {2016 Sep}, pages = {1646-51}, abstract = {

PROBLEM: Only a small proportion of HPV+ women develop virus-associated lesions and cervical cancer, suggesting that other factors are involved in HPV+ keratinocyte transformation. Immune response plays an important role in clearing HPV infection, and host genetic variants resulting in defective immune response have been associated with virus persistence and/or cervical cancer. Considering that genetic variations in inflammasome genes were previously associated with viral infection and cancer development, the present study investigates selected single nucleotide polymorphisms (SNPs) in inflammasome genes as a possible risk factor for HPV infection susceptibility and/or for progression to cervical cancer.

PATIENTS AND METHODS: 12 SNPs in seven inflammasome-related genes (NLRP1, NLRP3, NLRP6, CARD8, IL1B, IL18, TNFAIP3) were genotyped in a Brazilian HPV+ case/control cohort (n = 246/310). Multivariate analysis was performed in case/control as well as in HPV+ women stratified by the presence or severity of histologic lesion, HPV persistence, and type of virus.

RESULTS: IL1B rs1143643 was associated with protection against HPV infection in case/control analysis. NLRP1 rs11651270 plays a protection role against HPV persistence and/or oncogenesis. NLRP3 rs10754558 and IL18 rs1834481 exert a beneficial role against HPV persistence. NLRP3 rs10754558 variant resulted significantly associated with a lower risk to be infected with a high-risk HPV.

CONCLUSION: Our findings for the first time demonstrated that inflammasome genetics could affect HPV/host interaction in terms of virus susceptibility as well as of virus/persistence and cervical cancer progression. J. Med. Virol. 88:1646-1651, 2016. {\textcopyright} 2016 Wiley Periodicals, Inc.

}, issn = {1096-9071}, doi = {10.1002/jmv.24514}, author = {Pontillo, A and Bricher, P and Leal, V N C and Lima, S and Souza, P R E and Crovella, S} } @article {7686, title = {Distribution of forensic marker allelic frequencies in Pernambuco, Northestern Brazil.}, journal = {Genet Mol Res}, volume = {14}, year = {2015}, month = {2015}, pages = {4303-10}, abstract = {

Pernambuco is one of the 27 federal units of Brazil, ranking seventh in the number of inhabitants. We examined the allele frequencies of 13 short tandem repeat loci (CFS1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, vWA, and TPOX), the minimum recommended by the Federal Bureau of Investigation and commonly used in forensic genetics laboratories in Brazil, in a sample of 609 unrelated individuals from all geographic regions of Pernambuco. The allele frequencies ranged from 5 to 47.2\%. No significant differences for any loci analyzed were observed compared with other publications in other various regions of Brazil. Most of the markers observed were in Hardy-Weinberg equilibrium. The occurrence of the allele 47.2 (locus FGA) and alleles 35.1 and 39 (locus D21S11), also described in a single study of the Brazilian population, was observed. The other forensic parameters analyzed (matching probability, power of discrimination, polymorphic information content, paternity exclusion, complement factor I, observed heterozygosity, expected heterozygosity) indicated that the studied markers are very informative for human forensic identification purposes in the Pernambuco population.

}, issn = {1676-5680}, doi = {10.4238/2015.April.30.2}, author = {Santos, S M and Souza, C A and Rabelo, K C N and Souza, P R E and Moura, R R and Oliveira, T C and Crovella, S} }