贵州汉族人群载脂蛋白A5-1131T>C及56C>G基因多态性与2型糖尿病的相关性研究

The Association of ApoA5 Gene- 1131T > C and 56C > G Polymorphism with Type 2 Diabetes Mellitus in Han People of Guizhou

目的探讨载脂蛋白A5(ApoA5)-1131T>C及56C>G基因多态性与贵州汉族人群2型糖尿病(T2DM)及体内血脂水平的关系。方法选取2012年3月—2013年3月贵阳医学院附属医院收治的无亲缘关系的T2DM患者192例为T2DM组,另选择同时期我院体检中心体检血脂及血糖正常者206例为对照组,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)结合琼脂糖凝胶电泳技术检测ApoA5-1131T>C、56C>G基因型,并统计等位基因频率分布情况,同时采用全自动生化分析仪测定血脂、血糖水平。结果 Hardy-Weinberg遗传平衡定律检验,对照组(χ2=0.477,P=0.489)、T2DM组(χ2=1.597,P=0.206)ApoA5-1131T>C基因型分布均符合遗传平衡定律,具有群体代表性。两组的基因型和等位基因频率比较,差异均有统计学意义(P<0.05);相对风险显示携带TC+CC基因型者患T2DM的风险是TT基因型的1.965倍。对照组和T2DM组TC+CC基因型携带者三酰甘油(TG)水平高于TT基因型携带者(P<0.05)。ApoA5 56C>G位点位于ApoA5第二外显子,仅检测出CC一种基因型,没有发现其他基因型。结论 ApoA5-1131T>C基因多态性与贵州汉族人群T2DM的发病风险有关,携带C等位基因的人群发病风险更高,且C等位基因与TG水平增高有关;未检测出ApoA5 56C>G基因多态性。

Objective To study the association of ApoA5 gene - 1131T 〉 C and 56 C 〉 G polymorphism with type2 di- abetes mellitus （T2DM） and lipid spectrum in Han People of Guizhou. Methods 192 T2DM unrelated patients received by the Affiliated Hospital of Guiyang Medical College during the period from March 2012 to March 2013 were selected as the T2DM group while 206 people with normal level of blood lipid and blood sugar once taking physical examination in our hospital during the same period as the control group. In order to examine the genotype of ApoA5 - 1131T 〉 C and 56C 〉 G, the technology of agarose gel - electrophoresis combined with polymerase chain reaction/restriction fragment length polymorphism （ PCR - RFLP） was adopt- ed. The frequency distribution of the allelic genes was also recorded while the level of blood lipid and blood sugar were examined with automatic chemistry analyzer. Results The distribution of genotype of ApoA5 - 1131T 〉 C in the control group （ X2 = 0. 477, P = 0. 489 ） and T2DM group （ x2 = 1. 597, P = 0. 206 ） has been found to conform to the Hardy - Weinberg law of genetic equi- librium and was also representative of the group. The genotype and allele frequency of the two groups showed statistically significant difference （P 〈0. 05） . The 1131C type carriers （TC ＋ CC） had an 1. 965 times increased risk of T2DM compared with 3T geno- type （ OR = 1. 965 ） and had a significant increase in TG levels compared with non - C carriers （tiT） （ P 〈 0. 05 ） . ApoA5 56C 〉 G was in exon2 of ApoA5, and only CC genotype was detected. Conclusion ApoA5 - 1131T 〉 C polymorphism is associated with the risk of rF2DM in Han People of Guizhou. C allele has a significantly increased T2DM risk and is associated with the increased serum TG levels. We do not observe ApoA5 gene 56C 〉 G polymorphism.