NNMT基因多态性与非酒精性脂肪性肝炎的相关性

目的 探讨NNMT基因多态性（rs694539）与非酒精性脂肪性肝炎（NASH）的相关性.方法 收集2010年1月至2013年6月本院76例NASH患者和160例与入组患者种族、年龄、性别相匹配的健康志愿者为研究对象,利用聚合酶链限制性长度多态性分析（PCR-RFLP）技术检测NNMT基因多态性.基因型及等位基因频率的比较行χ2检验,两组间均数的比较采用t检验.以非条件性Logistic回归模型计算的比值比及其95%可信区间表示基因型与NASH发生的相对风险度.结果 NNMT基因多态性与NASH发病具有相关性,其中NNMT基因型的GG型（OR为0.57,95%CI为0.33~0.98; χ2=4.13;P=0.04）为保护因素,AA型（OR为2.55,95%CI为1.10~5.88; χ2=5.02;P=0.03）为危险因素.NASH患者血清同型半胱氨酸（Hcy）水平显著低于正常对照组（12.97±1.65）vs （13.52±1.72） μmol/L,P=0.02].在Logistic回归分析中,将AST、ALT、身体质量指数（BMI）、甘油三酯（TG）、总胆固醇（TC）、Hcy等变量进行校正后,A等位基因（OR为3.79,95%CI为1.21~11.89; P=0.02）及ALT水平（OR为1 08,95%CI为1.05~1.11; P=0.00）为危险因素.结论 NNMT基因多态性（rs694539）与NASH的发生具有相关性.

Association between NNMT gene polymorphism and nonalcoholic steatohepatitis

Objective To investigate the association between nicotinamide N -methyltransferase （NNMT） gene rs694539 variant and non- alcoholic steatohepatitis （NASH）. Methods A total of 76 NASH patients who visited or were hospitalized in our hospital from January 2010 to June 2013, as well as 160 healthy volunteers matched with the patients for race, age, and sex, were included in the study. NNMT gene polymorphism was detected by polymerase chain reaction - restriction fragment length polymorphism. The genotype and allele frequencies were compared by chi - square test, and comparison of means between two groups was made by t test. The association between NNMT geno- types and NASH was evaluated using odds ratio （OR） calculated by unconditional logistic regression model, as well as its 95% confidence interval （CI）. Results NNMT gene rs694539 variant was found to be significantly associated with NASH. GG genotype was a protective factor against NASH （ OR = O. 57, 95 % CI = 0. 33 - 0. 98 ; ）（2 = 4. 13 ; P = 0. 04） , while AA genotype was a risk factor for NASH （ OR = 2. 55, 95 % CI = 1.10 - 5.88 ; X2 = 5.02 ; P =0.03 ）. The NASH patients had significantly lower serum homocysteine （Hcy） levels than the healthy controls （ 12.97 ＋ 1.65 vs 13.52 -＋ 1.72 μmol/L, P =0.02）. The logistic regression analysis showed that A allele （ OR =3.79, 95 % CI = 1.21 - 11.89 ; P = 0.02） and alanine aminotransferase （ALT） （ OR = 1.08, 95 % CI = 1.05 - 1.11 ; P = 0.00 ） were risk fac- tors for NASH after adjustment for sex, aspartate aminotransferase, ALT, body mass index, triglyceride, total cholesterol, and Hcy. Con- clusion NNMT gene rs694539 variant is a genetic risk factor for developing NASH.