ELOVL6基因单核苷酸多态性与妊娠期糖尿病的相关性

Association between single nucleotide polymorphism of ELOVL6 and gestational diabetes mellitus

目的探讨辽宁地区汉族人群中超长链脂肪酸延伸酶6(elongation of very long chain fatty acids protein 6,ELOVL6)基因2个SNP位点与妊娠期糖尿病(gestational diabetes mellitus,GDM)的相关性。方法选择2012年6月至2013年6月来我院就诊GDM孕妇128例(GDM组),同期健康孕妇145例作为对照组。记录一般临床资料包括年龄、孕周、身高、体质指数(body mass index,BMI),空腹胰岛素(FIN)及空腹血糖(FPG)水平。采用PCR结合直接测序,检测ELOVL6基因rs12504538和rs17041272位点SNP基因型频率和等位基因频率。分析两组孕妇不同基因型及等位基因胰岛素抵抗指数(HOMA-IR)和胰岛β细胞功能指数(HOMA-β)的差异。结果 GDM组FPG、FIN及HOMA-IR值高于健康对照组,但HOMA-β水平低于健康对照组(<0.05)。SNP位点rs17041272基因型及等位基因频率在GDM组和对照组间无差异。rs12504538位点基因型(TT,CT,CC)与对照组比较,T等位基因频率明显高于对照组。GDM组CT基因型孕妇FPG、FIN及HOMA-IR水平高于TT基因型者(<0.05)。结论 ELOVL6基因SNP位点rs12504538与GDM发病相关,可能是GDM潜在靶向位点,C等位基因为易感基因。

Objective To evaluate the association between the single-nucleotide polymorphism（SNP） of ELOVL6 gene and gestational diabetes mellitus（GDM） in Han population who lived in Liaoning province. Methods A retrospective study including 128 women with GDM（GDM group） and 145 normal pregnancies（NC group） was performed. The general clinical data including age, gestational weeks, height, BMI, fasting plasma glucose（FPG）, fasting insulin（FIN） were measured for every subject. Homeostasis model assessment-insulin resistance（HOMA-IR） and homeostasis model assessment-β cell function（HOMA-β） were detected. DNA polymorphisms at genetic variation in ELOVL6, rs12504538（T/C） and rs17041272（C/G） were genotyped by direct sequencing. Results FPG, FIN and HOMA-IR levels were higher in GDM group than in control group, but lower for HOMA-β level. There was no significant difference in genotype distribution between GDM and healthy controls for rs17041272. However, for rs12504538 polymorphism, there was significant difference in genotype distribution between GDM and healthy control group. The T allele frequency was significantly higher in GDM than in control group. FPG, FIN and HOMA-IR levels were higher in CT genotype than in TT genotype in GDM group（ P〈0.05）. Conclusion The rs12504538 polymorphism of ELVOL6 is a potential risk factor for GDM in Han population in Liaoning province.