蒙古族人群FOXC2-512C＞T基因多态性与代谢综合征相关性研究

目的 探讨蒙古族人群代谢综合征(MS)发病的遗传机制和遗传易感性,为MS的早期预防及诊断治疗提供科学依据.方法 通过采用等位基因序列特异性聚合酶链反应法检测FOXC2-512C＞T基因多态性,比较MS组与正常对照组间基因型和等位基因频率分布,同时通过比较不同基因型间BMI、腰臀比、血压、TG、空腹血糖、高密度脂蛋白(HDL)水平差异,分析FOXC2-512C＞T基因多态性与MS的关系.结果 MS组腹围、臀围、BMI、空腹血糖、TG、TC、SBP、DBP均明显高于对照组,HDL值明显低于对照组,差异均有统计学意义(P＜0.05).MS组及对照组FOXC2-512C＞T基因分布均符合Hardy-Weinberg遗传平衡(x2=1.21,P=0.28;x2=1.51,P=0.20).MS组FOXC2-512C＞T基因C/C、T/C、T/T频率分别为26.7%、58.3%、15.0%,对照组为13.9%、39.3%、46.7%;MS组C、T等位基因频率为55.8%、44.2%;对照组为33.6%、66.4%.2组间基因型分布比较及等位基因分布比较,差异均具有统计学意义(均P＜0.05).多元逐步Logistic回归分析显示,在包头地区蒙古族人群中,FOXC2-512C＞T基因型、空腹血糖、TG、血压、BMI是MS发病的危险因素.结论 FOXC2-512C＞T基因型对MS的发生有较高的危险性,其很有可能成为MS治疗的新靶点.但FOXC2-512C＞T基因是否可作为中国内蒙古地区蒙古族人群MS发病的分子遗传学标志,还有待进一步大样本的研究予以证实.

Abstract：

Objective To analyze the genetic mechanism and susceptibility of metabolic syndrome (MS) in the Mongolian in order to provide evidence for the early prevention, diagnosis and treatment of MS. Methods We used PCR-SSP to detect FOXC2-512C ＞ T gene polymorphism to compare the difference of frequency of the genotype and allele between the MS group and the control group. The relationships between FOXC2-512C ＞ T gene polymorphism and MS were analyzed through comparison of BMI, WHR, BP, TG, glucose and HDL among different genotypes. Results Significant larger or higher abdominal circumference, hip, BMI, glucose, TG, TC, SBP and DBP but lower HDL were observed in the MS group compared to those in the control group(P ＜0.05). FOXC2-512C ＞T gene distribution in the MS and control group conformed to Hardy-Weinberg equilibrium (x2 = 1.21, P =0.28 ;x2= 1.51 ,P =0.20 respectively). In the MS group, the frequency of C/C, T/C and T/T in the FOXC2-512C ＞ T gene was 26.7%, 58.3% and 15.0% respectively. However, the frequency in the control group was 13.9%, 39.3% and 46.7% respectively( P ＜0.05). The frequency of C and T allele between the MS and control group were significantly different( P ＜0.05 ). Multivariable Logistic regression results showed that FOXC2-512C ＞ T genotype,FBG, TG, BP and BMI were risk factors of MS in the Mongolian. Conclusions The study shows that T allele might be the protective factor of MS while C allele might be the risk factor. FOXC2-512C ＞T genotype is a highly risk factor of MS, which might be the new target of the therapy for MS. However, further larger study is warranted to verify whether FOXC2-512C ＞ T gene can be molecular genetic marker of Inner Mongolia in China.