Association Of PDZK1, IGF1R And HLF Gene Polymorphisms With Primary Gout In Chinese Han Population In Shandong Province

Objectives: The rs6598541 insulin-like growth factor 1 receptor(IGF1R) gene, rs7224610 in hepatic leukemia factor(HLF) gene and rs1967017 near PDZ domain containing 1(PDZK1) gene proved to be significantly associated with the risk of hyperuricemia and gout in patients of European and Polynesia descent. However, evidence for association with gout in the Chinese population is inadequate. Thus, we conducted this study to identify whether variants of these three loci affectgout susceptibility in Chinese Han males.Methods: 932 gout patients and 1,124 healthy controls were recruited for this study,genomic DNA were extracted from peripheral blood leukocytes, after amplified the target gene segments by polymerase chain reaction(PCR), the final results were obtained by sequenator. Using SPSS 1 9.0 statistical software for statistical analysis. Chi-square test and t test was used for compared the differences between the two groups. The representativeness of the sample was verified by Hardy-Weinberg.Results: Rs6598541 and rs1967017 allele frequencies were significantly different between gout and control groups, but only rs1967017 showed a significant difference in genotype(rs6598541, P=0.033, OR=1.12 by allele level; P=0.099 by genotype level; rs1967017, P=0.009, OR=1.43 by allele level; P=0.015 by genotype level). rs7224610 was not replicated(rs7224610, P=0.990, OR=1.03 by allele level; P=0.802 by genotype level). With T-allele carriers of rs1967017 showing an increased risk of gout(OR=1.43, 95%CI=1.12-1.82), the recessive genotype TT had a higher risk possibility(P=0.024, OR=1.33, 95%CI=1.08-1.65).Conclusion: We validated rs6598541 and rs1967017 to be associated with gout in Chinese Han male population and unrelated tourate levels, and T allele of rs1967017 may be a risk factor for gout.