Dataset Information

Genetic polymorphisms in the PDZK1 gene and susceptibility to gout in male Han Chinese: a case-control study.

ABSTRACT: PDZK1 acts as a scaffolding protein for a large variety of transporter and regulatory proteins, and has been identified in the kidney. The PDZK1 locus has been determined to be associated with the serum urate concentration. However, the evidence supporting this protein's association with gout is equivocal. In the current study, we investigated the association between two single nucleotide polymorphisms (SNPs) (rs12129861 and rs1967017) in the PDZK1 gene with gout in a male Chinese Han population. A total of 824 subjects were enrolled in this case-control study (400 gout cases and 424 controls). PDZK1 genotyping was carried out by polymerase chain reaction (PCR) and ligase detection reaction (LDR) assays methods. The relationships were evaluated using the pooled odds ratios (ORs) and their 95 % confidence intervals (CI). The results of our case-control study demonstrated that the gout and control groups exhibited significant differences in the distribution of genotypes at rs12129861 (OR = 0.727, P = 0.015) and rs1967017 (OR = 0.705, P = 0.016), suggesting that PDZK1 genetic polymorphisms were associated with increased risks of gout in male Han Chinese. However, there were no differences in the distribution of genotypes at rs12129861 (odds ratio (OR) = 0.744, P > 0.05) and rs1967017 (OR = 0.706, P > 0.05) in patients with gout with kidney stones and without kidney stones.

SUBMITTER: Li M

PROVIDER: S-EPMC4613032 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Genetic polymorphisms in the PDZK1 gene and susceptibility to gout in male Han Chinese: a case-control study.

Li Ming M Li Qiang Q Li Chang-Gui CG Guo Min M Xu Jin-Mei JM Tang Ying-Ying YY Zhao Qing-Song QS Hu Yu-Hua YH Cheng Zhi-Feng ZF Zhang Jin-Chao JC

International journal of clinical and experimental medicine 20150815 8

PDZK1 acts as a scaffolding protein for a large variety of transporter and regulatory proteins, and has been identified in the kidney. The PDZK1 locus has been determined to be associated with the serum urate concentration. However, the evidence supporting this protein's association with gout is equivocal. In the current study, we investigated the association between two single nucleotide polymorphisms (SNPs) (rs12129861 and rs1967017) in the PDZK1 gene with gout in a male Chinese Han population ...[more]

PMID: 26550347

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Project description:Gout is a common arthritic disease resulting from elevated serum uric acid (SUA) level. A large meta-analysis including 28,141 individuals identified nine single nucleotide polymorphisms (SNPs) associated with altered SUA level in a Caucasian population. However, raised SUA level alone is not sufficient for the development of gout arthritis and most of these SNPs have not been studied in a Han Chinese population. Here, we performed a case-control association analysis to investigate the relationship between these SUA correlated SNPs and gout arthritis in Han Chinese.A total of 622 ascertained gout p9atients and 917 healthy controls were genotyped. Genome-wide significant SNPs, rs12129861, rs780094, rs734553, rs742132, rs1183201, rs12356193, rs17300741 and rs505802 in the previous SUA study, were selected for our analysis.No deviation from the Hardy-Weinberg equilibrium was observed either in the case or control cohorts (corrected p?>?0.05). Three SNPs, rs780094 (located in GCKR, corrected p?=?1.78E(-4), OR?=?0.723), rs1183201 (located in SLC17A1, corrected p?=?1.39E(-7), OR?=?0.572) and rs505802 (located in SLC22A12, corrected p?=?0.007, OR?=?0.747), were significantly associated with gout on allelic level independent of potential cofounding traits. While the remaining SNPs were not replicated. We also found significant associations of uric acid concentrations with these three SNPs (rs780094 in GCKR, corrected p?=?3.94E(-5); rs1183201 in SLC17A1, corrected p?=?0.005; rs505802 in SLC22A12, corrected p?=?0.003) and of triglycerides with rs780094 (located in GCKR, corrected p?=?2.96E(-4)). Unfortunately, SNP-SNP interactions for these three significant SNPs were not detected (rs780094 vs rs1183201, p?=?0.402; rs780094 vs rs505802, p?=?0.434; rs1183201 vs rs505802, p?=?0.143).Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs505802 in SLC22A12 were confirmed to be associated with gout arthritis and uric acid concentrations in Han Chinese males. Considering genetic differences among populations and complicated pathogenesis of gout arthritis, more validating tests in independent populations and relevant functional experiments are suggested in future.

Dataset Information

Genetic polymorphisms in the PDZK1 gene and susceptibility to gout in male Han Chinese: a case-control study.

Publications

Genetic polymorphisms in the PDZK1 gene and susceptibility to gout in male Han Chinese: a case-control study.

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