Li Yun-Feng, Sun Hong-Xia, Wu Guo-Dong, Du Wei-Nan, Zuo Jin, Shen Yan, Qiang Bo-Qin, Yao Zhi-Jian, Wang Heng, Huang Wei, Chen Zhu, Xiong Mo-Miao, Meng Yan, Fang Fu-De
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
World J Gastroenterol. 2003 Sep;9(9):2078-82. doi: 10.3748/wjg.v9.i9.2078.
To identify the susceptible gene (s) for type 2 diabetes in the previously mapped region, 1p36.33-p36.23, in Han population of North China using single nucleotide polymorphisms (SNPs) and to analyze the haplotypes of the gene (s) related to type 2 diabetes.
Twenty three SNPs located in 10 candidate genes in the mapped region were chosen from public SNP domains with bioinformatic methods, and the single base extension (SBE) method was used to genotype the loci for 192 sporadic type 2 diabetes patients and 172 normal individuals, all with Han ethical origin, to perform this case-control study. The haplotypes with significant difference in the gene (s) were further analyzed.
Among the 23 SNPs, 8 were found to be common in Chinese Han population. Allele frequency of one SNP, rs436045 in the protein kinase C/zetagene (PRKCZ) was statistically different between the case and control groups(P<0.05). Furthermore, haplotypes at five SNP sites of PRKCZ gene were identified.
PRKCZ gene may be associated with type 2 diabetes in Han population in North China. The haplotypes at five SNP sites in this gene may be responsible for this association.
利用单核苷酸多态性(SNP)确定中国北方汉族人群2型糖尿病在先前定位区域1p36.33 - p36.23中的易感基因,并分析与2型糖尿病相关基因的单倍型。
采用生物信息学方法从公共SNP数据库中选取位于定位区域10个候选基因中的23个SNP,运用单碱基延伸(SBE)法对192例散发2型糖尿病患者和172例均为汉族血统的正常个体进行基因分型,以开展此项病例对照研究。对基因中存在显著差异的单倍型进行进一步分析。
在这23个SNP中,发现8个在中国汉族人群中较为常见。蛋白激酶C/ζ基因(PRKCZ)中的一个SNP,rs436045,其等位基因频率在病例组和对照组之间存在统计学差异(P<0.05)。此外,还确定了PRKCZ基因5个SNP位点的单倍型。
PRKCZ基因可能与中国北方汉族人群的2型糖尿病相关。该基因5个SNP位点的单倍型可能与这种关联有关。