Li Zhao, Yadav Umesh, Mahemuti Ailiman, Tang Bao-Peng, Upur Halmurat
Heart Center, First Affiliated Hospital of Xinjiang Medical University Xinjiang, China.
Basic Medical College, Xinjiang Medical University Xinjiang, China.
Int J Clin Exp Med. 2015 Oct 15;8(10):17703-11. eCollection 2015.
The aim of this study was to reveal the association between Methylene tetrahydrofolate reductase (MTHFR) gene mutations (C677T, A1298C and C1317T) and risk of venous thromboembolism (VTE) in Han and Uyghur population in Xinjiang.
We conducted a case control study composed of 246 cases, including 86 Uyghur and 160 Han ethnic diagnosed VTE were admitted in the First Affiliated Hospital of Xinjiang Medical University between January 2008 to December 2012, and 292 population including 122 Uyghur ethnic and 170 Han ethnic were studied as controls. To detect the polymorphism of MTHFR gene C677T, A1298T, and C1317T, Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied. Fluorescence polarization immunoassay was adopted to determine the plasma levels Homocysteine (Hcy), folic acid and vitaminB12 (VitB12). The association of the polymorphism of MTHFR and levels Hcy, folic acid and VitB12 with VTE was analyzed.
The MTHFR gene C677T genotypes distribution in Uyghur VTE patients and control groups were: TT (27.91% vs. 12.29%), CT (41.86% vs. 52.46%) and CC (30.23% vs. 35.25%), respectively; and in Han VTE patients and control groups were: TT (27.49% vs. 14.71%), CT (44.38% vs. 53.53%) and CC (28.13% vs. 31.76%), respectively, and there were significant differences in TT genotype of MTHFRC677T between VTE patients and controls in both Uyghur and Han ethnic (Uyghur: x(2)=8.070, P=0.005; Han: x(2)=8.159, P=0.004). However, there were no significant differences in the MTHFR gene A1298T and C1317T genotyping distribution frequency in Uygur and Han ethnic between VTE patients and controls (P>0.05). Plasma levels of Hcy in MTHFR gene TT genotype were statistically higher than CT and CC genotype (P<0.05). After adjusting for age, gender, smoking, hypertension, hyperlipidemia, diabetes and MTHFR genotype for plasma Hcy levels, multifactor logistic regression analysis showed (OR=1.025, 95% CI 1.003-1.046, P=0.024) and obesity (OR=4.660, 95% CI 1.417-15.324, P=0.011) were independent risk factors for Uygur ethnic with VTE while plasma Hcy levels (OR=1.020, 95% CI 1.006-1.034, P=0.004) and smoking (OR=2.867, 95% CI 1.062-6.586, P=0.024) were independent risk factors for Han ethnic with VTE.
Our finding supports significant role of MTHFR gene in VTE and evidence of genetically determined HHcy contribute a risk for VTE, and a smoker with tHcy has positive association with a risk of VTE.
本研究旨在揭示新疆汉族和维吾尔族人群中亚甲基四氢叶酸还原酶（MTHFR）基因突变（C677T、A1298C和C1317T）与静脉血栓栓塞症（VTE）风险之间的关联。
我们进行了一项病例对照研究，研究对象包括246例患者，其中86例维吾尔族和160例汉族被诊断为VTE，于2008年1月至2012年12月在新疆医科大学第一附属医院住院治疗，另有292名人群作为对照，包括122名维吾尔族和170名汉族。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测MTHFR基因C677T、A1298T和C1317T的多态性。采用荧光偏振免疫分析法测定血浆同型半胱氨酸（Hcy）、叶酸和维生素B12（VitB12）水平。分析MTHFR多态性以及Hcy、叶酸和VitB12水平与VTE的关联。
MTHFR基因C677T基因型在维吾尔族VTE患者和对照组中的分布分别为：TT（27.91%对12.29%）、CT（41.86%对52.46%）和CC（30.23%对35.25%）；在汉族VTE患者和对照组中的分布分别为：TT（27.49%对14.71%）、CT（44.38%对53.53%）和CC（28.13%对31.
