中文摘要：

目的 研究新疆哈萨克族原发性高血压（essential hypertension,EH）患者转化生长因子β1（transforming growth factor-β1,TGF-β1）＋869T/C、＋915G/C基因多态性及血浆水平与EH的关系.方法 采用聚合酶链反应-限制性片段长度多态性和基因测序对新疆哈萨克族365名EH患者及435名正常对照组进行基因分型,用双抗体夹心法测量TGF-β1血浆浓度.结果 ＋915G/C位点基因型GG、GC及等位基因G、C频率依次为97.9%、2.1%、98.77%、1.23%,EH组与对照组差异无统计学意义（P＞0.05）;＋869T/C位点基因型TT、TC、CC及等位基因T、C在对照组中频率依次为25.97%、46.67%、27.36%、49.3%、50.7%,CC基因型及C等位基因频率在EH组中高于对照组（41.60%vs.27.36%、62.2%vs.50.7%）,差异有统计学意义（P＜0.05）,C等位基因携带者EH患病风险高于T等位基因携带者（OR=1.6O,P=0.00）.＋869T/C与＋915G/C存在连锁不平衡,其形成的单倍型C-G在EH组中频率高于对照组（61.6%vs.49.8%,P＜0.05）.＋869T/C及＋915G/C基因型、等位基因在EH组和对照组中TGF-β1血浆水平差异无统计学意义（P＞0.05）.结论 新疆哈萨克族TGFβ1＋915G/C基因变异频率很低,且不存在纯合变异,＋869位点C等位基因可能是哈萨克族EH的遗传易感基因,＋869T/C与＋915G/C多态性位点存在连锁不平衡,两者构成的单倍型C-G是EH危险性因素.

英文摘要：

Objective To investigate the association of the transforming growth factor-β1 （TGF-β1）gene polymorphisms and blood TGF-β1 level with essential hypertension （EH） in Kazakh Chinese. Methods The polymorphisms of TGF-β1 gene in 354 Kazakh EH patients and 435 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and DNA sequencing.The blood level of TGF-β1 was quantified using specific sandwich ELISA. Results The frequencies of genotypes GG, GC and alleles G and C of ＋915G/C in Xinjiang Kazakh were 97.9%, 2.1% and 98. 77%,1.23%, respectively. No significantly difference was found between EH patients and controls （P＞0.05）.The frequencies of genotypes TT, TC, CC and alleles T and C of ＋869T/C in controls was 25.97%,46.67%, 27.36%, 49. 3% and 50.7%, respectively, the CC genotype or C allele in EH patients had significantly higher frequencies than controls[41.60% vs. 27.36%, and 62.2% vs. 50.7%, respectively （P＜0.05）]. It was also shown that TGF-β1 ＋869 C allele carriers had significantly increased risk of EH compared with T allele carriers （OR=1.60,P= 0.00）. There was linkage disequilibrium （LD） between the two polymorphisms. The frequency of haplotype C-G in the EH group was significantly higher than that in controls （61.6% vs. 49.8%, P＜ 0.05）. There were no differences in TGF-β1 level among different genotypes or alleles in both ＋ 869T/C and ＋ 915G/C loci （P＞ 0.05）. Conclusion The frequency of ＋915G/C variation of the TGF-β1 gene was very low in Kazakh and there was no homozygous variation.The ＋ 869 C allele was likely the genetic susceptibility factor for EH in the population. There was linkage disequilibrium in the polymorphisms of ＋ 869T/C and ＋915G/C. Haplotype C-G was the risk factor of EH.