亚甲基四氢叶酸还原酶基因C677T突变与高尿酸血症的相关性研究  

The association of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation with hyperuricemia

作　　者：石海燕[1] 董砚虎[1] 南海荣[1] 钱薇薇[1] 钱荣立[2] 

机构地区：[1]青岛市内分泌糖尿病医院潍坊医学院研究生培养基地,266071 [2]北京大学第一医院

出　　处：《中国糖尿病杂志》2006年第3期178-181,共4页Chinese Journal of Diabetes

摘　　要：目的探讨高尿酸血症(HUM)与亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变及高血糖、肥胖和高血压等的相关性。方法从青岛地区糖尿病流行病学调查数据库中,随机选取HUM+T2DM患者79例、HUM无T2DM患者(HUM组)90例、并选取T2DM无HUA患者(DM组)90例和健康对照(NC)91例。采用聚合酶链反应限制性片段长度多态性技术检测MTHFR基因突变。结果HUM组和HUM+T2DM组MTHFR677T等位基因频率分别为46.7%和51.3%,TT基因型频率分别为23.3%和26.6%,两组差异无统计学意义(P>0.05);T等位基因和TT基因型频率在NC组和DM组间差异无统计学意义(P>0.05);而HUM组和HUM+T2DM组MTHFR677T等位基因型频率和TT基因型频率均分别高于NC组和DM组(P<0.005)。CT和TT基因型患者平均血尿酸水平(分别为394.2μmol/L和465.8μmol/L)明显高于CC基因型者(347.3μmol/L)(P<0.05)。多因素logistic回归分析表明,调整BMI、SBP、TG、TC及饮酒等因素后显示,MTHFR基因型是HUM患病的独立危险因素。结论MTHFR基因C677T突变是青岛地区人群发生HUM的独立危险因素。Objective To investigate the relationship between methylenetetrahydrofolate reductase （MTHFR） gene C677T mutation and hyperuriceamia （HUM） in a Chinese population. Methods A population-based cross-sectional survey on hyperuricemia was performed in adults （aged 20- 74 years） in Qingdao during 2002. HUM was defined as serum UA levels of 〉420μmol/L in men and 360 μmol/L in women. From this data, the randomly chosen 169 HUM patients were divided into two groups： HUM with T2DM （n=79） and HUM without DM （n=90）. And 90 T2DM subjects without HUM and 91 healthy people were studied as control groups. The PCR-RFLP was used to detect the MTHFR gene C677T mutation. All analyses were performed using SPSS10.0 package. Results MTHFR 677T allelic and TT genotype frequencies were higher in isolated HUM （46. 7% and 23.3%） and HUM with DM （51.3% and 26. 6%） than those in isolated DM （36.7% and 16.7%） and control group （34. 6% and 14. 3%） respectively （all P〈0. 05）. The mean serum levels of uric acid of the CT and TT genotypes （394. 2 μmol/L and 465.8 μmol/L） were higher than that in CC genotype （347.3 μmol/L） （all P〈0. 05）. In multiple Logistic regression analysis, MTHFR genotypes, BMI, SBP, TG, TC and alcohol-drinking were found to be independent risk factors for HUM. Condusions The mutation of the MTHFR gene may be an independent risk factor for HUM.

关 键 词：高尿酸血症 亚甲基四氢叶酸还原酶 基因 突变 

分 类 号：R589.7[医药卫生—内分泌]