摘要
目的 研究转化生长因子β1TGF-β1基因标签单核苷酸多态（tSNP）及血浆水平与新疆汉族原发性高血压（EH）的关系,阐明连锁不平衡（LD）模式以及单体型分布特征.方法 采用整群抽取随机抽样的方式,以新疆沙湾县732例汉族人（EH组365例,对照组367例）为研究对象,进行流行病学调查和临床检查,并采集血样.用双抗体夹心法（ELISA试剂盒）测量TGF-β1浆浓度.SNaPshot方法进行基因分型.结果 （1）TGF-β1因rs11466345位点等位基因A、G在EH组和对照组中分布频率分别为69.7%、30.3%、74.4%、25.6%,EH组G等位基因频率高于对照组（χ^2=3.949,P=0.047）,G等位基因患病风险为A等位基因1.261倍（95%CI 1.003～1.585,P=0.047）,其他tSNP基因型及等位基因频率在EH组和对照组分布差异元统计学意义（P〉0.05）.（2）除m11466345位点外,其他tSNP位点间存在强LD,其构成的单体型频率在EH及对照组中分布差异无统计学意义（P〉0.05）.（3）TGF-β1因tSNP在EH组与对照组各基因型和等位基因之间TGF-β1浆水平差异无统计学意义（P〉0.05）.结论 TGF-β1因rs 11466345G等位基因可能是新疆汉族EH的遗传易感基因,其他tSNP可能与该民族EH不相关,除rs11466345位点外,其余tSNP位点间存在强LD,其构成的单体型与EH无关;在新疆汉族人群中TGF-β1因tSNP与TGF-β1浆水平不相关.
Objective Essential hypertension （EH） was a complex disease resulted from the interaction of cumulative effect of multiple genetic and environment factors. The relationship between the genetic polymorphisms in the transforming growth factor-β1（ TGF-β1）, the blood levels and EH have been investigated, but the conclusions were different. Therefore, we investigate the relationship between the tagging single nucleotide polymorphisms （tSNPs） （ rs1800469, rs2241716, rs11466345, rs2241715,rs4803455） in TGF-β1gene, blood levels and EH in the Han nationality population in Xinjiang, to clarity the pattern of linkage disequilibrium （LD） and the feature of the structure of haplotype. Methods Based on the case-control study,we selected 732 （365 EH patients,367 controls） Han Chinese population from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China by random cluster sampling. After questionnaire and physical examination, we collected blood samples, and the blood levels of TGF-β1 were quantified using sandwich ELISA. The polymorphisms of TGF-β1gene in the study groups were detected with SNaPshot system. The case-control study in a large group was carried out separately for each of the tSNP and followed up by haplotypes analyses to determine the relation between tSNPs of TGF-β1gene and EH in the Han population. Results （ 1 ） The frequencies of alleles A, G of rs11466345 of TGF-β1 gene in EH group and control group were as follows： 69.7%, 30. 3% ,74.4%,25.6%, respectively. It was demonstrated that the G allele of the rs11466345 polymorphism occurred at a significantly higher frequency in EH patients than in healthy controls （30. 3% vs. 25. 6%, P 〈0. 05）. The rs11466345G-allele carriers had a significantly increased risk of EH compared to rs11466345A -allele carrier （ OR = 1. 261 ; P 〈0. 05）. The frequencies of genotypes and alleles of the other tSNPs of TGF-β1gene had no difference between EH patients and controls （ P 〉 0. 05 ）. （2
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2010年第6期503-509,共7页
Chinese Journal of Cardiology
基金
国家自然科学基金（30760077）
关键词
高血压
多态性
单核苷酸
转化生长因子Β1
汉族
Hypertension
Polymorphism, single nacleotide
Transforming growth factor-β1
Han nationality
