深圳地区人群2型糖尿病相关基因多态性的研究

目的研究分析深圳地区2型糖尿病（DM）相关基因浆细胞膜糖蛋白（PC-1）基因K121Q多态性，探讨其于2型DM的关系。方法选择214例2型DM患者和295例非DM对照人群作病例对照研究。聚合酶链反应-限制性酶切片段长度多态性（PCR-RFLP）检测PC-1基因K121Q多态性。并分析其与2型DM的相关性。结果PC-1基因PCR扩增片段大小为240bp，与预期的扩增片段大小相符。扩增片段经限制性内切酶AvaⅡ酶切后，产生Q与K两个等位基因，出现2种基因型条带，分别为KK型和QK型。509例研究对象中，KK基因型者433例，所占比例最高，为85．07％；KQ基因型者次之，有76例，占14．93％；未见QQ基因型。K等位基因频率为92．53％，Q等位基因频率为7．47％。各组基因型频率及等位基因频率比较，差异均有统计学意义（P〈0．05）。以是否患2型糖尿病为因变量，PC．1基因K121Q基因型为自变量，进行Logistic回归分析。单因素分析结果表明，与KK基因型者相比，KQ基因型与2型DM存在显著相关性，其P=0．034，OR=1．84，OR95％CI为（1．05-3．24）。结论PC-1基因K121Q多态性与2型糖尿病存在相关性，KQ基因型可能是2型糖尿病的危险因素之一。

Studies on the Polymorphism of PC-Gene and Its Relationship with Type 2 Diabetes Mellitus among Chinese Population in Shenzhen Areas

Objective To investigate the K121Q polymorphism of membrane glycoprotein PC-1 gene, and its relationship with type 2 diabetes mellitus. Method Case control study was carried out among 509 subjects, including 214 patients with type 2 diabetes mellits and 295 controls with normal glucose tolerance. Genotypes of K121Q were determined by polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLP） and DNA sequencing. Result The frequencies of genotype in the patients and control groups were 80.68% and 91.12% for KK, and 19.32% and 8.88% for KQ. The genotype of QQ was not found. The allele frequencies in the patients and control group were 90.34% and 95.56% for K, and 9.66% and 4.44% for Q. The difference in the genotype frequency and allele frequency between the two groups was significant （P〈0.05）. Results from the logistic regression analysis indicated that the occurrence of type 2 diabetes mellitus wasassociated with the KQ genotype （P=0.034, OR=1.84,OR95% CI=1.05-3.24）. Conclusion The K121Q polymorphism of PC-1 gene was correlated with type 2 diabetes mellitus. KQ genotype may be one of the risk factors.