南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (11): 1562-.

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维生素D受体基因FokⅠ及BsmⅠ多态性与老年男性2型糖尿病脂代谢异常的相关性

夏征，胡亚卓，张红红，韩志涛，白洁，傅淑宏，邓新立，何耀   

  • 出版日期:2014-11-20 发布日期:2014-11-20

Association of vitamin D receptor Fok I and Bsm I polymorphisms with dyslipidemias in
elderly male patients with type 2 diabetes

  • Online:2014-11-20 Published:2014-11-20

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摘要： 目的探讨维生素D受体（VDR）基因FokⅠ和BsmⅠ位点多态性与北京地区汉族老年男性2型糖尿病脂代谢异常的相关
性。方法采用聚合酶链反应-限制性片段长度多态性技术（PCR-RFLP）和基因测序技术，检测328例北京汉族老年男性VDR
基因FokⅠ和BsmⅠ位点基因型和等位基因频率，同时与相关临床指标进行比较。其中2型糖尿病患者（DM组）237例与正常对
照（NC组）91例。根据血脂情况将DM组分为非血脂异常组（DO组）134例和血脂异常组（DH组）103例。结果VDR基因Fok
Ⅰ和BsmⅠ位点基因频率分布符合Hardy-Weinberg平衡，具有群体代表性。VDR基因FokⅠ位点F等位基因频率在DM组较
NC组显著升高（χ2=3.873，P=0.049，OR=1.439，95% CI：1.001-2.071）。在显性模型下，DM组FF基因型频率较NC组显著升高（χ2=
5.057，P=0.025，OR=1.756，95% CI：1.072-2.875）；DH组FF基因型频率较NC组显著升高（χ2=6.168，P=0.013，OR=2.06，95% CI：
1.161-3.663）；其余各组组间比较，基因型及等位基因频率差异均无统计学意义（P>0.05）；与Ff+ff基因型比较，FF基因型人群的
平均舒张压水平显著降低，而餐后2 h血糖、甘油三酯、尿酸的水平显著升高，差异有统计学意义（分别是P=0.039；P=0.035；P=
0.049；P=0.031）。BsmⅠ位点基因型及等位基因频率在各组间的差异均无统计学意义（P>0.05）。bb基因型人群血肌酐水平显
著高于BB+Bb基因型，差异有统计学意义（P=0.011）。结论VDR基因FokⅠ位点多态性可能是老年男性2型糖尿病合并脂代
谢异常的危险因素，而BsmⅠ多态性可能与老年男性2型糖尿病无相关。

Abstract: Objective To assess the association of vitamin D receptor (VDR) gene Fok I and Bsm I polymorphisms with
dyslipidemia in elderly male patients with type 2 diabetes of Han nationality. Methods A total of 328 elderly male residents of
Han nationality in Beijing, including 237 type 2 diabetic patients and 91 healthy control subjects, were enrolled in this study.
The diabetic patients were divided into non-dyslipidemia group (DO group, n=134) and dyslipidemia group (DH group, n=
103). All the participants were genotyped for Fok I and Bsm I polymorphisms in VDR gene using polymerase chain
reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing technology, and the results were
compared with their clinical characteristics. Results For Fok I, the frequency of F allele was significantly higher in the diabetic
patients than in the control group (χ2=3.873, P=0.049, OR=1.439, 95% CI: 1.001-2.071). In the dominant model, the frequency of
FF genotype was significantly higher in the diabetic group (χ2=5.057, P=0.025, OR=1.756, 95% CI: 1.072-2.875) as well as in DH
group (χ2=6.168, P=0.013, OR=2.06, 95% CI: 1.161-3.663) than in the control group. There was no significant differences in the
genotype frequency or allele distribution in other paired groups (P>0.05). Compared with Ff + ff genotype, FF genotype was
associated with a significantly decreased average diastolic blood pressure (P=0.039) but significantly increased postprandial
blood glucose (P=0.035), triglycerides (P=0.049) and uric acid (P=0.031). No significant difference was detected in genotype
frequency or allele distribution of Bsm I polymorphisms between the groups (P>0.05); serum creatinine levels were
significantly higher in bb genotype than in BB + Bb genotype group (P=0.011). Conclusion VDR gene Fok I polymorphisms
may be a risk factor for dyslipidemia in elderly male patients with type 2 diabetes among Chinese Han population, where Bsm
I polymorphisms are not associated with diabetic dyslipdiemia.