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目的探讨亚甲基四氢叶酸还原酶MTHFR C677T、胱硫醚-β-合成酶CBS 844ins68基因多态性与潍坊市城区、农村居民H型高血压的关系,以进一步了解H型高血压发病的遗传学机制。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLR),对潍坊市城区740名和农村800名成年人(包括高血压患者),进行MTHFR C677T、CBS 844ins68基因型分型和血浆同型半胱氨酸(Hcy)水平检测。结果所调查的人群高同型半胱氨酸血症患者城区、农村分别占55.81%、35.63%,城区高Hcy(>10μmol/L)者413人(55.81%),农村285人(35.63%),城区高于农村(P<0.01);城区H型高血压患病率(25.27%)高于农村(11.75%)(P<0.01);城区组MTHFR C677T基因TT、CT、CC基因频率分别为41.62%、47.16%、11.22%,农村组为25.88%、58.75%、15.38%,差异有统计学意义(P<0.01);高血压人群中,MTHFR C677T基因TT基因型的Hcy水平(15.17±5.37μmol/L)高于CC+CT基因型(9.71±5.81μmol/L),(P<0.01),TT基因型H型高血压患者的比例(71.81%)高于CC+CT基因型(38.68%)(P<0.01);CBS 844ins68DD、DI基因型在城市、农村间人群基因型和等位基因频率分布、高血压人群Hcy水平及H型高血压患者比例,差异无统计学意义(P>0.05)。结论潍坊市居民的MTHFR C677T基因型频率、Hcy水平、H型高血压患病率存在城乡差异,MTHFR C677T基因纯合突变可能是引起Hcy水平升高,进而引发H型高血压的重要遗传因素,CBS 844ins68基因多态性与H型高血压无明显相关。
Objective To investigate the relationship between polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T, cystathionine-β-synthase (CBS) 844ins68 and H-type hypertension in urban areas and rural residents of Weifang City in order to further understand the relationship between H-type hypertension Genetics mechanism. Methods The polymorphisms of MTHFR C677T, CBS 844ins68 and plasma were detected in 740 adults and 800 adults in rural areas of Weifang City (including hypertensive patients) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLR) Homocysteine (Hcy) levels were measured. Results In the surveyed population with hyperhomocysteinemia, 55.81% and 35.63% were urban and rural respectively, 413 (55.81%) were high Hcy (> 10μmol / L) in city and 285 (35.63%) were rural, The prevalence of Hypertension in urban areas was higher than that in rural areas (25.27%) (11.75%) (P <0.01). The frequencies of TT, CT and CC genes of MTHFR C677T gene in urban area were 41.62 %, 47.16% and 11.22% respectively. There was a significant difference in the incidence of TT genotype of MTHFR C677T gene (15.17 ± 5.37μmol, P <0.01) in the rural population with 25.88%, 58.75% and 15.38% (71.81%) was higher than that of CC + CT genotype (38.68%) in CCT genotype (9.71 ± 5.81μmol / L) (P <0.01). There was no significant difference in genotype and allele frequency distribution between CBS 844ins68DD and DI genotypes in urban and rural areas, Hcy level in hypertension and Hypertension patients (P> 0.05) . Conclusion The prevalence of MTHFR C677T genotype, Hcy and Hypertension prevalence in urban and rural areas of Weifang residents are different. Homozygous mutation of MTHFR C677T gene may be an important genetic factor that causes the increase of Hcy and further Hypertension. CBS 844ins68 gene polymorphism and Hypertension no significant correlation.