ABSTRACT
Objective To investigate the association of PR gene exon 5 region H770H (rs1042839) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (EM) in southern Han Chinese women. Methods Totally 431 EM patients and 499 non-EM women were collected and separated into EM group and control group, that all cases were confirmed by operation and pathology. A case-control study was performed in EM and control groups to evaluate the association of these SNP with the susceptibility to EM by using a fluorescent quantitative PCR-based high resolution melting (HRM) method. Results The C and T of PR H770H allele frequencies among the EM and control groups were 97.9%(844/862), 2.1% (18/862) and 99.4% (992/998), 0.6% (6/998), respectively. The CC, CT and TT of PR H770H genotype frequencies among the EM and control groups were 95.8%(413/431), 4.2%(18/431), 0 and 98.8%(493/499), 1.2%(6/499), 0, respectively. There were statistical significances in the PR H770H alleles and genotypes distributions between the two groups (χ2=7.386, P=0.007;χ2=8.135, P=0.004). Carrying allele C reduced the risk of EM (OR=0.986, 95%CI: 0.976-0.996), while carrying allele T enhanced the risk of EM (OR=3.319, 95%CI: 1.323-8.325); carrying genotype CC reduced the risk of EM 0.970 time (OR=0.970, 95%CI: 0.949-0.991), whereas carrying genotype CT enhanced the risk of EM 3.473 times (OR=3.473, 95%CI:1.391-8.671). Conclusion There is significant association between the polymorphism of PR H770H and genetic susceptibility to EM in southern Han Chinese women.
ABSTRACT
Objective To investigate the association of polymorphisms of arylhydrocarbon receptor (AhR) - 1661G/A with glutathione S-transferase pi ( GSTP1 ) - 313A/G and the susceptibility to endometriosis in southern Han Chinese.Methods Total of 432 endometriosis patients undergoing laparoscopic or laparotomy surgery matched with 493 patients with fallopian tube ligation,tubal recanalization,laparoscopic hydrotubation,benign ovarian tumor and teratoma surgeries without endometriosis as control group were enrolled in this study.The single nucleotide polymorphism (SNP) of AhR -1661G/A and GSTP1 -313A/G were detected by using a fluorescent quantitative PCR-based high resolution melting (HRM).Results The numbers of combined genotypes AhR - 1661G/A and GSTP1 -313A/G were 120 patients with AG + AA,64 patients with AG + AG,8 patients with AG + GG,109 patients with GG +AA,84 patients with GG + AG,4 patients with GG + GG,31 patients with AA + AA,10 patients with AA + AG,1 patient with AA + GG at endometriosis group and 131 patients with AG + AA,68 patients with AG + AG,6 patients with AG + GG,157 patients with GG + AA,66 patients with GG + AG,4 patients with GG + GG,35 patients with AA + AA,20 patients with AA + AG,3 patients with AA + GG at endometriosis group.There was no statistically different frequencies of genotypes between endometriosis group and control group (x2 = 12.558,P = 0.128 ).Compared with genotype GG + AA,the risk of endometriosis with genotype GG + AG was increased 1.833 time (95％CI:1.233-2.274).Conclusion The combined genotype GG + AG [ from AhR - 1661G/A (GG) and GSTP1 - 313A/G (AG) ] might be related with susceptibility to endometriosis.
ABSTRACT
Objective To investigate the association of tumor necrosis factor-alpha (TNF-α) gene promoter region - 1031T/C and its combination with interleukin-6 (IL-6 ) gene promoter region -634C/G single nucleotide polymorphisms (SNP) with the genetic susceptibility to endometriosis.Methods Total of 432 endometriosis patients and 499 non-endometriosis women who had received an operation due to tubal ligation,tubal recanalization,laparoscopic hydrotubation,ovarian simple cyst and teratoma were collected and separated into endometriosis group and control group,that all cases were confirmed by operation and pathology.A case-control study was performed in endometriosis and control group to evaluate the association of these SNP with the susceptibility to endometriosis by using a fluorescent quantitative PCR-based high resolution melting ( HRM ) method.Results ( 1 ) TNF-α - 1031T/C genotype:the T and C of TNF-α - 1031T/C allele frequencies in the endometriosis group and control group were 79.2％ (684/864),20.8％ (180/864) and 81.8％ (816/998),18.2％ (182/998),respectively.The TT,TC and CC of TNF-α - 1031T/C genotype frequencies in the two groups were 63.7％ (275/432),31.0％ ( 134/432 ),5.3％ (23/432) and 66.5％ (332/499),30.5％ (152/499),3.0％ ( 15/499),respectively.There were no statistical significances in the TNF-α - 1031T/C alleles and genotypes distributions between the two groups ( P =0.158,P =0.186 ).( 2 ) TNF-α - 1031T/C and IL-6 - 634C/G conjoint genotypes:to research on the TNF-α - 1031T/C and IL-6 -634C/G genotypes for conjoint analysis,the TT + CC,TC + CC,CC +CC,TT + CG,TC + CG,CC + CG,TT + GG,TC + GG and CC + GG combination genotype frequencies in the two groups were 39.4％ ( 170/432 ),19.4％ ( 84/432 ),4.6％ ( 20/432 ),20.6％ ( 89/432 ),8.8％ (38/432),0.9％ (4/432),3.5％ (15/432),2.3％ (10/432),0.5％ (2/432) and 36.7％ ( 183/499),17.4％(87/499),1.4％ (7/499),26.1％ (130/499),10.4％ (52/499),1.2％ (6/499),3.8％ (19/499),2.6％ ( 13/499),0.4％ (2/499),respectively.There were no statistical significances in the combination genotypes distributions between the two groups ( P =0.107 ).As compared with carriers of TT + CC combination genotype,the endometriosis risk of carriers of CC + CC combination genotype enhanced 3.076 times ( 95％ CI:1.268 - 7.457,P =0.009 ),and the endometriosis risk of carriers of other combination genotypes were no statistical significances (all P ＞ 0.05 ).ConclusionsThe study demonstrates that there are no significant association between the SNP of TNF-α - 1031T/C and genetic susceptibility to endometriosis.However the results indicate that there are significant association betweengenetic susceptibility to endometriosis and the combination polymorphisms of TNF-α -1031T/C and IL-6- 634C/G.