SHP基因多态性与出生体重和胰岛素敏感性关系的双生子研究  

A Twin Study on Association of SHP Polymorphisms with Birth Weight and Insulin Sensitivity

作　　者：陈天娇[1] 季成叶[1] 王莹[1] 李秀茅[2] 

机构地区：[1]北京大学儿童青少年卫生研究所,北京100083 [2]北京大学医学部基础医学院

出　　处：《中国学校卫生》2008年第3期238-240,共3页Chinese Journal of School Health

摘　　要：目的探讨微小异源二聚体伙伴基因(small heterodimer partner gene,SHP)多态性与出生体重和胰岛素敏感性的关系,检测SHP基因的SNP位点rs7504多态性。方法采用DNA鉴定393对双生子(其中单卵双生子256对,二卵双生子137对)卵型,问卷询问出生体重,稳态模型胰岛素抵抗指数(HOMA-IR)衡量胰岛素敏感性,PCR-RFLP检测SHP基因SNP位点rs7504多态性,非参数连锁分析基因多态性与出生体重和胰岛素敏感性的关系。结果双生子人群TT,TC和CC基因型频率分别为84.9%,14.1%和1.0%。状态一致(identity by state,IBS)为2时双生子同胞间血糖和HOMA-IR组内相关系数大于IBS为1时;携带C突变等位基因者BMI、血糖和出生体重较高,但差异无统计学意义。结论SHP基因多态性可能与胰岛素敏感性及出生体重有关,作用仍有待于进一步研究。Objective To study the effect of SHP （small heterodimer partner gene） polymorphisms on birth weight and insulin resistance, and to detect the SHP rs7504 polymorphisms. Methods DNA microstatellite polymorphism was used to diagnose zygosity of 393 twin pairs （ MZ 256, DZ 137）. Birth weight was gained by questioanaire and insulin sensitivity was estimated with logarithm transformed homeostasis model assessment （ HOMA）. PCR-RFLP analysis was performed to detect the SHP rs750d polymorphisms. Identity by state （IBS） of non-Parametric Linkage Analysis Methods was used to analyze tile association of polymorphisms with birth weight and insulin sensitivity. Results The genotype frequencies of TT, TC and CC were 84.9% , 14.1% and 1.0%. The interclass co-twin correlations of blood glucose, and HOMA-IR of those twin pairs sharing 2 alleles of IBS were greater than those sharing 0 - 1 alleles of IBS. BMI, blood glucose and birth weight of those carrying the mutant C allele were higher, but the differences had no statistical significance. Conclusion SHP polymorphisms might be associated with insulin resistance and birth weight, further studies are necessary to confirm the results.

关 键 词：多态性 单核苷酸 出生体重 胰岛素 敏感性与特异性 双生研究 

分 类 号：R179[医药卫生—妇幼卫生保健] R339.35[医药卫生—公共卫生与预防医学]