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目的探讨KCNQ1基因单核苷酸多态性(SNPs)与2型糖尿病易感性的关系。方法应用基质辅助激光解吸附电离飞行时间质谱(MALD FTOF-MS)平台以及MassARRARY-iPLEX技术,分别对238例2型糖尿病患者和240例正常对照组KCNQ1基因的三个单核苷酸多态性位点(rs231361、rs231359和rs2237892)进行基因分型,并分析KCNQ1基因位点在两组间的差异。结果 rs2237892存在CC、TC、TT三种基因型多态性,在对照组中的基因型频率分别为45.5%、40.7%、13.8%,在病例组中的基因型频率分别为44.4%、49.6%、6.0%,该位点在对照组和病例组中分布差异有统计学意义(χ2=9.334,P=0.009)。相较于CC基因型,TT基因型其OR(95%CI)分别为0.416(0.206~0.840)(P=0.014)。位点rs231361和rs231359均存在三种多态性,但在病例组和对照组间差异无统计学意义。结论 KCNQ1基因位点rs2237892与2型糖尿病易感性相关,位点rs231361和rs231359与2型糖尿病易感性不相关。
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of KCNQ1 gene and the susceptibility to type 2 diabetes mellitus (T2DM). Methods Three single nucleotide polymorphisms (SNPs) of KCNQ1 gene were detected in 238 type 2 diabetic patients and 240 normal controls using matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALD FTOF-MS) (Rs231361, rs231359 and rs2237892) were genotyped and the difference between KCNQ1 loci in the two groups was analyzed. Results There were three genotypes of CC, TC and TT in rs2237892. The genotype frequency of control group was 45.5%, 40.7% and 13.8%, respectively. The genotype frequency of the cases was 44.4% and 49.6% , 6.0% respectively. There was a significant difference in the distribution between the control group and the case group (χ2 = 9.334, P = 0.009). Compared with CC genotype, OR (95% CI) of TT genotype were 0.416 (0.206-0.840) (P = 0.014), respectively. There were three polymorphisms in rs231361 and rs231359, but there was no significant difference between case group and control group. Conclusion KCNQ1 locus rs2237892 is associated with susceptibility to type 2 diabetes. Locus rs231361 and rs231359 are not associated with susceptibility to type 2 diabetes.