期刊連結：http://www.gouthyperuricemia.com

Objective: Recent studies show that polymorphisms rs780093 and rs780094 in glucokinase regulatory protein gene (GCKR) are significantly related to male Han Chinese. Based on the consideration of genetic heterogeneity in male and female gout, this study intended to explore the correlation between polymorphisms rs780093/rs780094 and gout susceptibility in the female population.
Methods: A total of 214 female gout patients and 424 normal controls were selected to extract genomic DNA from the peripheral blood. Target fragments in GCKR gene were amplified by polymerase chain reaction (PCR). The PCR products were then sequenced to determine the genotype, allele frequency, and then reveal the relationship between gout disease and single nucleotide polymorphisms (SNPs).
Results: On the basis of the data provided by the HapMap, there is a strong linkage disequilibrium between polymorphisms rs780093 and rs780094 in the Chinese Han population (correlation r2=0.96). We randomly selected 20 gout and 40 controls as the objects of study for genotype consistency test and verification. Results from the random sample of 60 subjects in genotypes of rs780093 and rs780094 were consistent with expectations. However, the genotype and allele frequency distributions between gout samples and controls did not show a significant difference (P=0.871 and P=0.649, respectively) even after adjustment for blood sugar (P=0.626 and P=0.377, respectively).
Conclusion: Polymorphisms rs780093 and rs780094 have strong linkage disequilibrium in GCKR gene, while the polymorphisms are not significantly associated with the susceptibility of gout in female Han Chinese.