山东汉族女性ERα基因多态性与Graves病的关系

Association of Estrogen Receptorα Gene Polymorphism with Female Graves'Disease of the Han Nationality in Shandong

目的探讨ERα基因多态性与山东汉族女性Graves病(GD)的关系。方法用PCR-RFLP方法检测100名汉族健康女性和200名汉族女性GD患者ERα-PvuⅡ基因型和ERα-XbaI基因型,放免法测定甲状腺功能。结果GD患者与健康对照组PvuⅡ酶切基因型、等位基因频率间均存在差异,有统计学意义(均P<0.05),而XbaI酶切基因型、等位基因频率差异无统计学意义(均P>0.05)。结论ERα-PvuⅡ基因型可能是预测汉族女性GD的遗传标志之一。

Objective To investigate the association of estrogen receptor α gene polymorphism with female Graves'disease(GD) of the Han nationality in Shandong.Methods The polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) was used to detect estrogen receptor α(ERα) genotype in 100 normal female controls and 200 female GD of the Han nationality,the thyroid function(FT3,FT4,sTSH,TPOab,TGA)were determined by radioimmunology in both groups.Results The frequencies of PP,Pp,pp genotype in healthy control group were 0.120,0.410,0.470 respectively,0.190,0.540,0.270 in GD group respectively,and the frequencies of XX,Xx,xx genotype in heathy control group were 0.210,0.600,0.19 respectively,0.230,0.610,0.160 in GD group respectively.There was significant difference of the frenquency of genotype pp between two groups(P<0.05),and no significant difference existed among other groups.Conclusion The ERα-PvuII genotype seem to be one of the genetic markers in predicating the risk of developing GD in female Chinese people of the Han nationality.