摘要
目的探讨骨形态发生蛋白-7（bone morphogenetic protein7，BMP7）基因变异与新疆维吾尔族人糖尿病、胰岛素抵抗的关系。方法采用以流行病学调查为基础的病例对照研究，选取717名（男276人、女441人）维吾尔族人作为研究对象，根据是否患有糖尿病分成糖尿病组（502例，男191例、女311例）和正常对照组（215人，男85人、女130人）。首先在48例维吾尔族糖尿病患者中测序筛查BMP7基因功能区的变异位点，选取代表性变异位点应用TaqMan—PCR技术在研究人群中进行基因型鉴定并开展病例一对照关联研究。结果在BMP7基因的功能区共发现5个新的和8个已知的变异位点。BMP7基因的2个代表性变异位点rs6025422、rs17480735均符合Hardy—Weinberg平衡。男性人群中rs6025422变异的AA、AG、GG基因型在糖尿病组及正常对照组中的频率分布差异有统计学意义（P〈0．05），但对P值校正后差异无统计学意义（P〉0．05），而总人群及女性人群中rs6025422变异基因型频率分布在病例、对照组间差异无统计学意义（P〉0．05）。男性人群中rs6025422变异不同基因型组间空腹血糖、空腹胰岛素水平、HOMA指数存在差异，并且AA、AG、GG3组呈现递减趋势（P〈0．05），而在总人群及女性人群中未发现上述现象。Logistic分析提示男性人群中rs6025422变异GG基因型是糖尿病的保护性因素（OR=0．637，95％可信区间0．439～0．923，P〈0．05）。结论BMP7基因变异位点rs6025422可能与新疆维吾尔族男性糖尿病、胰岛素抵抗相关。
Objective To investigate the association between the genetic variations of the functional region in bone morphogenetic protein gene （BMPT） with type 2 diabetes mellitus in Chinese Uygur individuals. Methods A case-control study was conducted based on epidemiological investigation. A total of 717 Uygur subjects （276 males and 441 females） were selected and divided into two groups： diabetes mellitusgroup （n=502, 191 males and 311 females） and control group （n=215, 85 males and 130 females）. All exons, flanking introns and the promoter regions of BMP7 gene were sequenced in 48 Uygur diabetics. Representative variations were selected according to the minor allele frequency （MAF） and linkage disequilibrium and genotyped using the TaqMan polymerase chain reaction method in 717 Uygur individuals, a relatively isolated general population in a relatively homogeneous environment and a case-control study was conducted to test the association between the genetic variations of BMP7 gene and type 2 diabetes mellitus. Results Five novel and 8 known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium （P〉0.05）. There was significant difference of genotype distribution of rs6025422 between type 2 diabetes mellitus and control groups in the male population （P〈0.05, P adjusted 〉0.05）, but there was no difference in total and female population （P〉 0.05）. And the means of fasting blood glucose （FBG）, fasting insulin and HOMA-index significantly decreased in individuals with AA, AG and GG genotypes of rs6025422 in male population （P〈0.05）, but not in total and female population （P〉0.05）. The logistic regression analysis showed that GG genotype of rs6025422 variation might be a protective factor for diabetes in male （OR = 0. 637,95 % confidence interval 0,439-0. 923, P〈0. 05）. Conclusion The present study suggests that the rs6025422 polymorphism in BMP7 gene may be associated with diabetes mellit
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2011年第3期287-292,共6页
Chinese Journal of Medical Genetics
基金
新疆维吾尔自治区重点实验室“新疆高血压病研究实验室”开放课题（XJYS0906-2009-03）
关键词
骨形态发生蛋白-7
遗传多态性
2型糖尿病
胰岛素抵抗
维吾尔族
bone morphogenetic protein 7
genetic polymorphism
type 2 diabetes mellitus
insulin resistance
Uygur population
