类KQT亚科-钾离子电压门控通道成员1基因多态性与赣州市居民2型糖尿病的相关性

Association between KQT Sub-Family Potassium Voltage-Gated Channel Number 1 Gene Polymorphism and Type 2 Diabetes Mellitus in Ganzhou Residents

目的探讨类KQT亚科-钾离子电压门控通道成员1(KCNQ1)基因单核苷酸多态性与赣州市居民2型糖尿病(T2DM)发病的关系。方法采用巢式病例对照研究方法,选择新发T2DM患者521例(T2DM组)、糖调节正常(NGT)者521例(NGT组)。应用多重PCR技术、MassARRAY iPLEX单碱基延伸技术和基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF)技术,对KCNQ1基因rs2237892、rs151290位点进行基因分型,比较rs2237892、rs151290位点基因型和等位基因在2组中的差异。结果 rs2237892位点存在CC、CT、TT 3种基因型,其在T2DM组的分布频率分别为49.41%、43.48%、7.11%,NGT组的分布频率分别为43.26%、46.48%、10.26%,CC基因型在2组之间的频率分布差异有统计学意义(χ~2=4.502,P=0.034),OR(95%CI)值为1.647(1.036~2.620);等位基因C、T在T2DM组的分布频率分别为71.15%、28.85%,NGT组分别为66.50%、33.50%,等位基因C在2组之间的频率分布差异有统计学意义(χ~2=5.049,P=0.025),OR(95%CI)值为1.242(1.028~1.501)。rs151290位点存在CC、CA、AA 3种基因型,其在T2DM组的分布频率分别为39.09%、49.01%、11.90%,NGT组分别为36.57%、47.27%、16.16%,2组之间各基因型分布频率比较差异均无统计学意义(P>0.05);其等位基因C、A的分布频率在2组之间比较差异亦无统计学意义(P>0.05)。结论 KCNQ1基因rs2237892位点多态性与赣州市居民T2DM的发病相关,而rs151290位点多态性可能与赣州市居民T2DM的发病无关。

Objective To investigate the association between KQT sub-family potassium voltage-gated channel member 1（KCNQ1）gene single nucleotide polymorphism（SNP）and type 2 diabetes mellitus T2 MD in Ganzhou residents.Methods The nested case-control sampling method was used to select 512 patients with T2DM and 521 subjects with normal glucose tolerance（NGT）.The genotypes of rs2237892 and rs151290 in KCNQ1 were determined using multiplePCR,MassARRAY iPLEX single base extension and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry（MALDI-TOF）.The loci and alleles of rs2237892 and rs151290 were compared between the two groups.Results There were three genotypes in rs223792：CC,CT and TT.Their frequencies were,respectively,49.41%,43.48% and 7.11%in T2 MD group,and 43.26%,46.48% and 10.26%in NGT group.There was a significant difference in frequency distribution of CC between the two groups[χ2=4.502,P=0.034,OR（95% CI）=1.647（1.036-2.620）].The frequencies of alleles C and T in T2 MD group（71.15% and 28.85%,respectively）were significantly different from those in NGT group（66.50% and 33.50%,respectively）[χ2=5.049,P=0.025,OR（95% CI）=1.242（1.028-1.501）].The rs 151290 had three genotypes：CC,AC and AA.Their frequencies in T2 MD group（39.09%,49.01%and 11.90%,respectively）were not different from those in NGT group（36.57%,47.27% and 16.16%,respectively）（P〉0.05）.Furthermore,there were no obvious differences in frequency distribution of alleles C and A between the two groups（P〉0.05）.Conclusion The KCNQ1 rs 2237892 polymorphism,but not rs151290 polymorphism,is associated with T2DM in Ganzhou residents.