亚甲基四氢叶酸还原酶基因多态性与原发性高血压的关系

目的：探讨上海社区人群亚甲基四氢叶酸还原酶（ｍｅｔｈｙｌｅｎｅｔｅｔｒａｈｙｄｒｏｆｏｌａｔｅｒｅｄｕｃｔａｓｅ，ＭＴＨＦＲ）基因多态性与原发性高血压的关系。方法：用聚合酶链反应限制性片段的多态性（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎｒｅｓｔｒｉｃｔｉｏｎｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍ，ＰＣＲＲＦＬＰ）技术，检测１２７例原发性高血压及１７０例正常对照的ＭＴＨＦＲ基因多态性。结果：ＭＴＨＦＲ基因第６７７位核苷酸呈多态性，可分为３种类型：Ｃ／Ｃ、Ｔ／Ｔ、Ｃ／Ｔ。原发性高血压病例组３种基因型频率为：Ｃ／Ｃ，３４．６％；Ｃ／Ｔ，５３．５％；Ｔ／Ｔ，１１．８％。对照组中分别为３６．５％；４９．４％；１４．１％。病例组与对照组Ｔ／Ｔ基因型频率无显著性差异。结论：在上海社区人群中，ＭＴＨＦＲ基因多态性可能不是原发性高血压的危险因素。

The relationship between methylenetetrahydrofolate reductase polymorphism and risk of essential hypertension

Objective: To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) polymorphism and risk of essential hypertension among Shanghai community based population. Methods: polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was carried out. Results:127 patients with essential hypertension and 170 control subjects were screened to assess the polymorphism in MTHFR. The frequency of three genotypes was C/C ( homozygous normal ) , 34.6%; C/T ( heterozygous ), 53.5%; T/T (homozygous mutant ) , 11.8 % in patients and 36.5%; 49.4%; 14.1% in control subjects. Conclusion: No significant difference of the frequency of homozygous mutant genotype between patients and control subjects was found in this population. MTHFR polymorphism may not be associated with risk of essential hypertension.