摘要目的 探讨中国南方汉族妇女芳香烃受体(arylhydrocarbon receptor,AhR)基因和芳香烃受体核转位子(arylhydroarbon nuclear translocator,ARNT)基因多态性与子宫内膜异位症的相关性.方法 收集经手术证实的431例子宫内膜异位症患者和499名对照人群外周血,采用高分辨率熔解曲线技术检测AhR及ARNT基因多态性.结果 病例组和对照组妇女AhR 1661G/A位点AA、AG、GG基因型频率分别为9.7%、44.6%、45.7%和12.0%、41.9%、46.1%,两组的基因频率差异无统计学意义(χ2=0.234,P=0.629);A和G等位基因频率为32.0%、68.0%和33.0%、67.0%,两组差异无统计学意义(χ2=0.189,P=0.664).病例组和对照组妇女ARNT 567G/C位点GG、GC、CC基因频率分别为13.5%、47.8%、38.7%和15.6%、51.7%、32.7%,两组差异无统计学意义(χ2=0.194,P=0.659);C、G等位基因频率为62.6%、37.4%和58.5%、41.5%,两组差异无统计学意义(χ2=3.30,P=0.07).2组间AhR1661G/A和ARNT 567G/C联合基因型频率分布差异亦无统计学意义(χ2=11.20,P=0.191).结论 中国南方妇女外周血AhR 1661G/A及ARNT 567G/C基因多态与子宫内膜异位症的发病无明显相关.

abstractsObjective To explore the association between the arylhydrocarbon receptor gene (AhR)1661G/A or arylhydrocarbon nuclear translocator gene (ARNT) 567G/C polymorphism and endometriosis in southern Han Chinese women. Methods The polymorphisms of AhR gene 1661G/A and ARNT gene 567G/C in 431 cases of endometriosis and 499 healthy women were genotyped by fluorescence quantitative PCR-based high resolution melting. Results The frequencies of genotypes AA, AG, GG and alleles A and G in controls were 12.0%, 41.9%, 46. 1%, 33.0% and 67.0%, respectively, which were not significantly different from those in patients with endometriosis (9. 7%, 44. 6%, 45. 7%, 32. 0% and 68. 0%,respectively). The genotype frequencies of GG, GC, CC and alleles C and G in controls (15.6 %, 51.7 %,32. 7%, 58. 5%, 41. 5%) were not significantly different from those in patients with endometriosis (13.5%, 47.8%, 38. 7%, 62. 6%, 37. 4%), either. And no interaction of AhR 1661G/A and ARNT 567G/C on endometriosis was found. Conclusion No association between AhR 1661G/A and ARNT 567G/C genetic polymorphisms and endometriosis was found in the southern Han Chinese women in this study.