CAJ | 학술논문

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MTHFR 677T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394.2 μmol/L和465.8μmol/L)明显高于CC基因型者(347.3 μmol/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.
목적탐토고뇨산혈증(HUM)여아갑기사경협산환원매(MTHFR)기인C677T돌변급고혈당、비반화고혈압등적상관성.방법종청도지구당뇨병류행병학조사수거고중,수궤선취HUM+T2DM환자79례、HUM무T2DM환자(HUM조)90례、병선취T2DM무HUA환자(DM조)90례화건강대조(NC)91례.채용취합매련반응-한제성편단장도다태성기술검측MTHFR기인돌변. 결과HUM조화HUM+T2DM조MTHFR677T등위기인빈솔분별위46.7%화51.3%,TT기인형빈솔분별위23.3%화26.6%,량조차이무통계학의의(P＞0.05);T등위기인화TT기인형빈솔재NC조화DM조간차이무통계학의의(P＞0.05);이HUM조화HUM+T2DM조MTHFR 677T등위기인형빈솔화TT기인형빈솔균분별고우NC조화DM조(P＜0.005).CT화TT기인형환자평균혈뇨산수평(분별위394.2 μmol/L화465.8μmol/L)명현고우CC기인형자(347.3 μmol/L)(P＜0.05).다인소logistic회귀분석표명,조정BMI、SBP、TG、TC급음주등인소후현시,MTHFR기인형시HUM환병적독립위험인소.결론MTHFR기인C677T돌변시청도지구인군발생HUM적독립위험인소.
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 >420 μmol/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. Conclusions The mutation of the MTHFR gene may be an independent risk factor for HUM.