摘要
目的探讨N5,10-亚甲基四氢叶酸还原酶(methylene-tetrahydrofolate reductase,MTHFR)基因C677T位点突变与宁夏地区汉族原发性高血压(essential hypertension,EH)之间的关系。方法收集EH患者(EH组)155例,健康体检正常血压者(NT组)140例,抽外周静脉血提取DNA,采用聚合酶链反应-限制性片段长度(PCR-RFLP)多态性技术分析,检测MTHFR基因型,以分析EH组和NT组的基因型和等位基因的频率分布及其与高血压的相关性。结果 CC、CT、TT基因型在EH组中分别占37.4%、45.2%和17.4%,在NT组中分别为52.9%、33.6%和13.6%,C、T等位基因在两组分别占60.0%、40.0%和69.6%、30.4%。CC、CT和TT 3种基因型总体分布频率差异有统计学意义(2=7.108,P<0.05),两组TT基因型比较差异无统计学意义(2=0.828,P>0.05),但两组变异型TT+CT比较差异有统计学意义(2=7.091,P<0.01)。EH组T等位基因频率高于NT组,差异有统计学意义(2=5.98,P<0.05)。CC基因型与CT/TT基因型在收缩压和脉压上差异无统计学意义(P>0.05),但在舒张压和平均动脉压上差异有统计学意义(P<0.05),CT/TT基因型高于CC基因型。二项逐步logistic回归结果显示,CT/TT基因型为EH的独立危险因素(OR=2.6049,5%CI为1.441～4.708,P=0.002)。结论 MTHFR基因C677T多态性可能与宁夏地区汉族EH发病有关,T等位基因有可能是宁夏地区汉族人群EH的易感基因。
Objective To investigate the correlation between C667T point mutation of N^5.10- methylene - tetrahydrofoIate reductase （MTHFR） and essential hypertension（EH） in Hen population in Ningxia. Methods DNA was extracted from peripheral blood in 155 EH patients and 140 normal -tensive （NT） subjects. The C677T point mutation of MTHFR gene was detected by polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP） , for analysis of the distribution of MTHFR gene C677T genotypes and alleles in the Han population of Ningxia and the correlation between MTHFR polymorphism and hypertension risk. Results The genotype frequencies of CC （homozygous normal）, CT （heterozygous） and TT （homozygous mutant） were 37.4%, 45.2% and 17.4%, respectively, in EH group; and were 52. 9% , 33.6% and 13.6%, respectively, in NT group. The frequencies of allele C and T were 60. 0% and 40. 0%, respectively, in EH group; and were 69. 6% and 30.4%, respectively, in NT group. Significant difference in all 3 genotype frequencies was revealed between EH and NT group （ Z2 = 7. 108, P 〈 0. 05 ）, while no significant difference was revealed in the genotype frequency of TT between the two groups （ X^2 = 0. 828, P 〉 0.05 ）. However, significant difference was revealed in T allele carrier frequency between the two groups （ X^2 =7.091, P 〈0. 01 ）. Meanwhile, signifi- cant higher T allele frequency was revealed in patients with EH than that in NT group （ X^2 = 5.98, P 〈 0. 05 ）. Although no significant difference in systolic blood pressure was observed between subjects with CC genotype and those with CT/TT genotype, significant lower diastolic blood pressure was observed in subjects with CC genotype （P 〈 0.05 ）. CT/TT geno- type was found as independent risk factor for EH according to binary stepwise logistic regression analysis （ OR = 2. 604, 95% CI = 1. 441 ± 4. 708, P = 0. 002）. Conclusion There is correlation between MTHFR C677T gene polymorphism with essential hypertension in Ningxia Han population. Furthermore, the T allele is suggested as susceptible gene.
出处
《广东医学》
CAS
CSCD
北大核心
2011年第15期1977-1980,共4页
Guangdong Medical Journal
基金
宁夏回族自治区自然科学基金资助项目(编号:NZ10134)
关键词
N5
10-亚甲基四氢叶酸还原酶
基因多态性
宁夏
汉族
高血压
N^5.10 -methylene -tetrahydrofolate reductase
gene polymorphism
Ningxia
Han nationality
hypertension
