No association of AhR gene 1661G/A and ARNT gene 567G/C polymorphisms with endometriosis in southern Han Chinese women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the association between the arylhydrocarbon receptor gene (AhR) 1661G/A or arylhydrocarbon nuclear translocatorgene (ARNT) 567G/C polymorphism and endometriosis in southern Han Chinese women.</p><p><b>METHODS</b>The polymorphisms of AhR gene 1661G/Aand ARNT gene 567G/C in 431 cases of endometriosis and 499 healthy women were genotyped by fluorescence quantitative PCR-based high resolution melting.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>

Association of single nucleotide polymorphism in CYP17 and ERα genes with endometriosis risk in southern Chinese women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphisms in cytochrome P450 17 (CYP17) and estrogen receptor alpha (ERα ) genes with the risk of endometriosis among southern Chinese women.</p><p><b>METHODS</b>Two SNPs rs743572 (CYP17 gene 34T/C) and rs9322331 (ERα gene -397T/C) were genotyped by high resolution melting curve in 432 endometriosis patients and 499 matched controls.</p><p><b>RESULTS</b>There was no significant difference in the genotype frequencies of the two loci between endometriosis patients and the control subjects (P> 0.05). And there was no significant interaction effect of these two genes on the disease either.</p><p><b>CONCLUSION</b>CYP17 gene and ERα gene may not be genetic risk factors for endometriosis among southern women in China.</p>

Association of the IL-6 gene 634C/G polymorphism with susceptibility to endometriosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of interleukin 6 gene (IL-6) promoter region 634C/G (rs1800796) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (Ems) in south Han Chinese women.</p><p><b>METHODS</b>A case-control study was performed in 432 Ems patients and 499 control women to evaluate the SNP of IL-6 634C/G by using a fluorescent quantitative PCR-based high resolution melting (HRM) method.</p><p><b>RESULTS</b>There were statistical significances in the IL-6 634C/G alleles, whether or not to carry allele G and genotype distributions between Ems patients and control women (P=0.032, 0.014 and 0.045, respectively). Allele C enhanced the risk of Ems 1.057 times while allele G reduced the risk of Ems 0.835 time. Carrying allele G reduced the risk of Ems 0.822 time, whereas not carrying allele G enhanced the risk of Ems 1.143 times. Compared with genotype CC, the risk of Ems with genotype CG reduced 0.704 time (95% CI: 0.533-0.931). There was no significant difference in whether or not carrying allele G distribution between Ems patients and control women (P=0.729).</p><p><b>CONCLUSION</b>The present study demonstrated significant association between the SNP of IL-6 634C/G and genetic susceptibility to Ems in south Han Chinese women.</p>