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目的:验证2型糖尿病(T2DM)易感基因CDKAL1(CDK5调节亚基相关蛋白1类似物1)rs7756992位点与中国汉族人群T2DM的关联性,并分析该位点不同基因型的临床特征,为本地区易感人群的筛选和疾病分子分型提供基础。方法:选取浙江省温州地区汉族人群T2DM患者534例和对照组453例,采用高分辨率熔解曲线(HRM)和DNA测序等基因分型技术,分析CDKAL1基因rs7756992位点等位基因及不同基因型在T2DM和对照组人群中频率分布的差异,并进一步了解不同基因型对T2DM患者临床特征及其并发症的影响。结果:rs7756992位点基因型GG/AA(P=0.048)和等位基因(A/G)的频率(P=0.045)在两组间差异有统计学意义,证实G为该位点风险等位基因;进一步对病例组内不同基因型的临床特征分析发现,GG基因型患者空腹血糖浓度偏低(年龄/性别校正后,P<0.01)而HbA1c值未见差异;等位基因和基因型频率在各种糖尿病慢性并发症间比较差异无统计学意义(P>0.05)。结论:浙江省温州地区汉族人群CDKAL1基因rs7756992多态性与T2DM发病相关联;结合文献报道,我们推测GG基因型可能与餐后血糖调节机制相关。
Objective: To verify the association between the rs7756992 locus of CDKAL1 (CDK5 regulatory subunit 1-like protein 1) and T2DM in Chinese Han population of type 2 diabetes mellitus (T2DM) susceptibility gene and analyze the clinical features of different genotypes in this locus The screening of susceptible populations in the region and the molecular typing of disease provide the basis. Methods: A total of 534 T2DM patients and 453 control subjects were enrolled in this study. Genotypes of rs7756992 alleles and genotypes of CDKAL1 gene were analyzed by high resolution melting curve (HRM) and DNA sequencing. Frequency distribution in T2DM and control subjects, and further understand the different genotypes of T2DM patients with clinical features and complications. Results: The frequency of genotype GG / AA (P = 0.048) and allele (A / G) in rs7756992 (P = 0.045) was significantly different between the two groups, confirming that G is the risk allele Further analysis of the clinical characteristics of different genotypes in the case group found that patients with GG genotype had lower fasting plasma glucose (P <0.01 after age / sex correction, but no difference in HbA1c), allele and genotype frequency There was no significant difference between various chronic complications of diabetes mellitus (P> 0.05). Conclusion: The rs7756992 polymorphism of CDKAL1 gene in Wenzhou Han population in Zhejiang province is associated with the pathogenesis of T2DM. Combined with the literature, we speculate that GG genotype may be related to postprandial glucose regulation.