A genetic polymorphism in GCKR may be associated with low high-density lipoprotein cholesterol phenotype among Filipinos: A case-control study

@#<p style="text-align: justify;"><strong>Background.</strong> Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.</p><p style="text-align: justify;"><strong>Objective.</strong> To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.</p><p style="text-align: justify;"><strong>Methods.</strong> An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.</p><p style="text-align: justify;"><strong>Results.</strong> Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.</p><p style="text-align: justify;"><strong>Conclusion.</strong> The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.</p>

Association of GCKR gene rs780094 polymorphism with hyperuricemia in Uygur in Xinjiang / 中华内分泌代谢杂志

Objective To investigate the relationship between glucokinase regulator protein ( GCKR) gene polymorphism rs780094 and hyperuricemia in Uygur in Xinjiang. Methods A case-control study including 1 026 patients with hyperuricemia and 1 030 normal subjects was conducted. All the subjects were genotyped for GCKR gene rs780094 by Sequenom MassARRAY system. The results of rs780094 genotype and allele frequency between hyperuricemia group and control group were compared. The associations of different genotypes of rs780094 with blood pressure, blood lipid, and blood glucose were analyzed. Logistic regression analysis was used to analyse the relationship between polymorphism of rs780094 and hyperuricemia in Uygur in Xinjiang. Results The distributions of three genotypes(G/G, A/G, A/A) and two allele frequency (G and A) in GCKR rs780094 revealed statistical difference ( P<0. 05 ) between hyperuricemia group and control group. A tendency toward association with hyperuricemia was observed under dominant model(OR=1. 295, 95%CI 1. 078~1. 554,P=0. 006) and recessive model(OR=1. 284, 95% CI 1. 024 ~1. 611,P=0. 030). The levels of systolic blood pressure, diastolic blood pressure, and total cholesterol were lower in hyperuricemia group with GCKR gene rs780094 loci GG genotype than those with AA+AG genotype. After adjusting confounding factors which had significant difference in the single factor analysis, logistic regression analysis showed that rs780094 A/A and A/G might be risk factors of hyperuricemia in Uygur in Xinjiang (OR=1. 355,95% CI 1. 094 ~1. 679,P=0. 005). Conclusion The GCKR rs780094 is associated with hyperuricemia in Uygur in Xinjiang. The A/A and A/G genotype of the GCKR rs780094 may increase the risk of hyperuricemia.