Association of the H770H of PR gene polymorphism with susceptibility to endometriosis / 中华妇产科杂志

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.

Association of P53 gene polymorphisms with susceptibility to endometriosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of a single nucleotide polymorphism(SNP) in tumor suppressor gene P53 with the risk of endometriosis (EM) in Han Chinese women.</p><p><b>METHODS</b>For 460 EM patients, 113 patients with endometrial carcinoma and 530 matched unrelated controls, a rs1042522(C/G) SNP of the P53 gene was genotyped by polymerase chain reaction-single strand polymorphism (PCR-SSP) and DNA sequencing.</p><p><b>RESULTS</b>A significant difference has been detected in the distribution of rs1042522 alleles and genotypes between the EM patients and controls (P< 0.01). Allele G has increased the risk of EM by 1.209 times, while allele C has reduced this risk by 0.837 times. Compared with GG genotype, GC and CC genotypes have both increased the risk for EM (OR=2.073, 95%CI: 1.521-2.820, and OR=1.930, 95%CI: 1.363-2.733, respectively). Significant differences were also detected in the distribution of rs1042522 alleles and genotypes between endometrial carcinoma patients and controls (P< 0.01). Allele G has increased the risk to endometrial carcinoma by 1.311 times, while allele C has reduced this risk by 0.757 times. Compared with GG genotypes, individuals with GC and CC genotypes are more likely to be affected with endometrial carcinoma (OR=2.778, 95%CI: 1.585-4.870, and OR=2.864, 95%CI: 1.557-5.263, respectively).</p><p><b>CONCLUSION</b>Our study has suggested a significant association between the rs1042522(G/C) polymorphism and susceptibility to EM in Han Chinese women. The mechanism of EM is similar to carcinoma from genetics point of view.</p>

Relationship of polymorphisms of AhR - 1661G/A with GSTP1 - 313A/G and susceptibility to endometriosis / 中华妇产科杂志

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.

Association of the tumor necrosis factor-alpha - 1031T/C and its combination with interleukin-6 -634C/G gene polymorphisms with susceptihility to endometriosis / 中华妇产科杂志

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.

Measurement of subgroups of peripheral blood T lymphocytes in patients with severe acute respiratory syndrome and its clinical significance / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the changes of subgroups of peripheral blood T lymphocytes in patients with severe acute respiratory syndrome (SARS) and its clinical significance.</p><p><b>METHODS</b>Subgroups of blood T lymphocytes in 93 patients with SARS were detected by flow cytometer. The results detected in 64 normal subjects and 50 patients with AIDS served as controls.</p><p><b>RESULTS</b>The numbers of CD(3)(+), CD(4)(+), and CD(8)(+) lymphocytes all significantly decreased in acute phase of patients with SARS [(722 +/- 533)/microliter, (438 +/- 353)/microliter, (307 +/- 217)/microliter] compared with those in normal controls [(1527 +/- 470)/microliter, (787 +/- 257)/microliter, (633 +/- 280)/microliter, all P <0.01], which was different from what we observed in patients with AIDS who had decreased CD(4)(+) [(296 +/- 298)/microliter] but increased CD(8)(+) [(818 +/- 566)/microliter] counts. The counts of CD(3)(+), CD(4)(+), and CD(8)(+) lymphocytes decreased more apparently in patients with severe SARS. All the five patients who died had CD(4)(+) counts less than 200/microliter. As the patients' condition improved, CD(3)(+), CD(4)(+), and CD(8)(+) counts gradually returned to normal ranges.</p><p><b>CONCLUSION</b>The damage of cellular immunity is probably an important mechanism of pathogenesis of SARS.</p>

Association between HBV infection and HLA-DPB1 gene in population of Guangzhou Chinese / 中国病理生理杂志

AIM: To investigate the association between HBV infection and HLA-DPB1 gene in population of Guangzhou Chinese. METHODS: 58 unrelated patients (test positive of HbsAg,HBeAg,HbcAb) and 75 unrelated healthy control individuals were typed by sequencing based typing (SBT) method in their HLA-DPB1 gene. RESULTS: The phenotype frequencies of HLA-DPB1 alleles of patients and control have no significant difference. CONCLUSION: These results indicate that there is no association between HLA-DPB1 gene and HBV infection.