[中国维吾尔族患者中STEAP4基因的遗传变异及其与代谢综合征的关联]
[Genetic variation and association of STEAP4 gene with metabolic syndrome in Chinese Uygur patients].
作者信息
Guo Yan-ying, Li Nan-fang, Wang Chang-min, Yan Zhi-tao, Zhang Ju-hong, Wang Hong-mei, Zhou Ling, Luo Wen-li
机构信息
Department of Hypertension, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, 830001 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):78-82. doi: 10.3760/cma.j.issn.1003-9406.2011.01.018.
OBJECTIVE
To investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population.
METHODS
The sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.8) and genotyped with TaqMan-PCR method in 1910 general populations (682 MetS and 1228 non-MetS controls). The subjects were selected from the cross-sectional study of obesity, hypertension, diabetes, dyslipidemia from January to February 2007 among Uygur people, a relatively isolated population with a relatively homogeneous environment, in Hextian area in Xinjiang Uygur Autonomous Region.
RESULTS
(1) Fourteen novel and six known single nucleotide polymorphisms (SNPs) or mutations, including 2 missense mutations, were identified at the functional region of STEAP4 gene in 96 Uygur patients with MetS. The minor allele frequencies of the SNPs of STEAP4 gene in Uygur population were different from that in European and Chinese Han in Beijing area. (2) The SNP 364G/A (rs34741656, Ala122Thr) was significantly associated with MetS [dominant model P = 0.034, OR = 0.757(95%CI: 0.584-0.982) adjusted for age and gender], and was associated with fasting blood glucose (FBG) (P = 0.049) and 2-hour postprandial glucose (2HPG) (P = 0.027) levels in controls. In this SNP, the AA carriers had lower blood glucose levels compared with subjects carrying GG and GT genotypes. (3) The common haplotype H4 (rs8122/rs1981529/ rs34741656, G-A-A), may be associated with MetS (permutation P = 0.089).
CONCLUSION
STEAP 4 genetic polymorphisms may be associated with MetS risk in Chinese Uygur population.
目的
研究中国维吾尔族代谢综合征（MetS）患者前列腺六跨膜上皮抗原4基因（STEAP4）的遗传变异情况，并分析STEAP4基因代表性遗传变异与该人群MetS的相关性。
方法
对MetS患者的STEAP4基因功能区序列（所有外显子、外显子 - 内含子边界及假定启动子区，包括 - 1 kb 5'和3'非翻译区）进行扩增和测序。基于功能（错义突变）和连锁不平衡（γ²>0.8）选择代表性变异，采用TaqMan - PCR方法在1910名普通人群（682例MetS患者和1228例非MetS对照）中进行基因分型。研究对象选自2007年1月至2月在新疆维吾尔自治区和田地区对维吾尔族人群进行的肥胖、高血压、糖尿病、血脂异常横断面研究，该人群相对隔离且环境较为同质。
结果
（1）在96例维吾尔族MetS患者的STEAP4基因功能区鉴定出14个新的和6个已知的单核苷酸多态性（SNP）或突变，包括2个错义突变。维吾尔族人群中STEAP4基因SNP的次要等位基因频率与欧洲人群及北京地区汉族人群不同。（2）SNP 364G/A（rs34741656，Ala122Thr）与MetS显著相关[显性模型P = 0.034，OR = 0.757（95%CI：0.584 - 0.982），经年龄和性别校正]，且与对照组空腹血糖（FBG）（P = 0.049）和餐后2小时血糖（2HPG）（P = 0.027）水平相关。在该SNP中，AA携带者的血糖水平低于携带GG和GT基因型的受试者。（3）常见单倍型H4（rs8122/rs1981529/rs34741656，G - A - A）可能与MetS相关（置换P = 0.089）。
结论
STEAP4基因多态性可能与中国维吾尔族人群MetS风险相关。
Zotero 插件