慢白激酶Cζ亚型基因及Urotensin Ⅱ基因中各有一个单核苷酸位点与中国北方汉族人群2型糖尿病相关

目的 采用单核苷酸多态性（single mucleotide polymorphism,SNP)标记,在以往中国北方汉族人群2型糖尿病相关基因定位区域（1p36.33-p36.23)内寻找疾病易感基因位点。方法 通过生物信息学方法在公共SNP数据库中查找定位区域内10个候选基因中的23个SNP位点,用单碱基延伸反应（single base extension,SBE)法对北方汉族人群散发2型糖尿病患者（192例）及对照组（172例）进行分型及病例－对照关联分析。结果 23个SNP位点中有8个为中国北方人群常见SNP位点;对病例组和对照组分型分析显示,位于蛋白激酶Cζ亚型（PRKCZ）基因中的一个位点（rs436045)及urotensin Ⅱ（UTS2）基因中的一个位点（rs228648),其等位基因频率在两组的差异具有统计学意义9P＜0．05）。结论 上述两个SNP位点可能和中国北方汉族人群2型糖尿病相关,以上结果为进一步研究上述两个位点所在的基因与2型糖尿病的关系提供了理论依据。

The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China

OBJECTIVE: To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs). METHODS: 23 SNPs located in 10 candidate genes in the mapping region were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method were used to genotype the loci in 192 sporadic type 2 diabetes patients and 172 normal individuals to perform case-control study. RESULTS: Among the 23 SNPs, 8 were found to be common in Chinese population. There were statistically different in the allele frequency of 2 SNP, rs436045 in the protein kinase C/xi gene and rs228648 in Urotensin II gene between case and control groups. CONCLUSIONS: The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.