P109 : CYTOKINES GENES AND AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN A BRAZILIAN POPULATION

2014 
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused mainly by mutations in genes PKD1 or PKD2, which result in accumulation of cysts in the kidneys. In this study we investigated the existence of possible associations between variants in cytokine genes and cytokine receptors genes: IL1A-889 (rs1800587), IL1B-511, +3962 (rs16944, rs1143634), IL1R1970 (rs2234650), IL1RA11100 (rs315952), IL4RA +1902 (rs1801275), IL12–1188 (rs3212227), IFNG +874 (rs2430561), TGFB1 codon 10,codon 25 (rs1982073, rs1800471), TNF-308, −238 (rs1800629, rs361525), IL2 −330 +166 (rs2069762, rs2069763), IL4–1098, −590, −33 (rs2243248, rs2243250, rs2070874), IL6–174, nt565 (rs1800795, rs1800797) e IL10–1082, −819, −592(rs1800896, rs1800871, rs1800872) and ADPKD. The samples were constituted by 60 patients with clinical and laboratorial diagnostic of ADPKD and 113 individuals without the disease historical, they were not related. Genotyping of the variants in genes for cytokines and cytokine receptors were performed by the PCR-SSP method (cytokine genotyping Kit, Invitrogen™). Association studies were calculated by Fisher’s exact test between frequencies by haplotypes, genotypes and alleles. Some differences were observed in proinflammatory cytokines: TNF-308, −238 ( GG/ GG [OR = 0.44]), −238 (G/G [OR = 0,35],G/A [OR = 2.84], G [OR = 0.38] and A [OR = 2.62]) and IL2 −330, +166 (GG/GG [OR = 4.93]), −330 (G/G [OR = 2.56]), and anti -inflammatory TGFB1codon 10 (C/C [OR = 2.22] and C [OR = 1.66]) and IL4 −1098, −590 −33 ( TCC/GCC [OR = 2.14]), −1098 (T/G [OR = 2.31]). We suggested that cytokine gene SNPs may influence in the predisposition to ADPKD.
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