重庆地区汉族2型糖尿病患者PRKAA2基因SNPs研究

Investigation of AMPKα2 subunit gene polymorphism of type 2 diabetes mellitus in Han populations in Chongqing

目的了解中国重庆地区汉族人群单磷酸腺苷(AMP)激活的蛋白激酶α2亚单位(AMPKα2)基因PRKAA2单核苷酸多态性(SNPs)位点与2型糖尿病(T2DM)的关系。方法选取重庆地区T2DM患者523例(病例组)、正常对照312例(对照组),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,对PRKAA2第1内含子区rs10889007(301A>T)和第2内含子区rs2746338(201A>G)2个SNPs进行基因分型;对2个SNPs进行连锁不平衡(LD)检验,并进行单倍型检测。结果 PRKAA2基因rs10889007(301A>T)3种基因型AA、AT、TT频率在病例组和对照组间差异无统计学意义(χ2=3.227,P>0.05),两组间少见等位基因T频率分布差异亦无统计学意义(χ2=0.887,P>0.05)。PRKAA2基因rs2746338(201A>G)3种基因型AA、AG、GG频率在病例组及对照组间差异无统计学意义(χ2=3.346,P>0.05),两组间少见等位基因G频率分布差异亦无统计学意义(χ2=0.981,P>0.05)。PRKAA2基因rs10889007(301A>T)和rs2746338(201A>G)之间构成的4种单倍型在病例组与对照组间差异无统计学意义(P>0.05)。结论 PRKAA2基因SNPs位点rs10889007(301A>T)和rs2746338(201A>G)与中国重庆地区汉族人群T2DM无关联。

Objective To study the distribution of genotypes 5＇-AMP-activated protein kinase alpha-2 subunit gene PRKAA2 rs10889007 （301A〉T） and rs2746338 （201A〉G） polymorphism in Han population in Chongqing, China, and to explore the relationship between these two single nucleotide polymorphisms （SNPs） and type 2 diabetes mellitus （T2DM）. Methods Five hundred and twenty-three patients with T2DM （case group） and 312 healthy subjects （control group） from Chongqing were enrolled in the present study. Genotyping was performed for all the subjects enrolled using PCR and restriction fragment length polymorphism （RFLP） to check the two single nucleotide polymorphisms （SNPs） rs10889007 （301A〉T） in the intron 1 region and rs2746338 （201A〉G） in the intron 2 region of PRKAA2. Linkage disequilibrium （LD） structure and haplotype were examined in two SNPs. Results The genotype frequency of AA, AT and TT of PRKAA2 rs10889007 （301A〉T） showed no statistical difference between case group and control group （χ2=3.227, P〉0.05）; the frequencies of minor allele （T） showed no significant difference between the two groups （χ2=0.887, P〉0.05）. The genotype frequency ofAA, AG and GG of PRKAA2 rs2746338 （201A〉G） showed no statistical difference between case group and control group （χ2=3.346, P〉0.05）; the frequencies of minor allele （G） showed no significant difference between two groups （χ2=0.981, P〉0.05）. The frequencies of the 4 haplotypes constructed with rs10889007 （301A〉T） and rs2746338 （201A〉G） of PRKAA2 gene showed no statistical difference between case group and control group （P〉0.05）. Conclusion There is no association between two SNPs rs10889007 （301A〉T） and rs2746338 （201A〉G） of PRKAA2 gene with T2DM in Han people living in Chongqing.