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>

Single nucleotide polymorphisms of TLR4 locus in Chinese Cantonese population / 中国病理生理杂志

AIM: Toll-like receptor 4 (TLR4) was an important pathogen recognition receptor in the innate immune system. The aim of this study was to investigate the distribution of TLR4 polymorphisms in the general population of China. METHODS: Peripheral blood samples were collected from 191 unrelated healthy Chinese Cantonese individuals. The functional regions of TLR4 locus,including promoter region and all three exons with their surrounding intronic regions were amplified using polymerase chain reaction. After purified,the amplified products were directly sequenced on both strands. RESULTS: A total of eight single nucleotides polymorphisms (SNPs) were detected,five of which were novel. The most common SNP were -1607 C/T with the minor allele frequency of 0.283. Two nonsynonymous substitutions Asp299Gly and Thr399Ile,which were common in Caucasus,were not detected in Cantonese. Neutrality test revealed that TLR4 in Chinese Cantonese was not significantly deviated from the neutral model. CONCLUSION: This is the new finding on the distribution of TLR4 SNPs in the general population of China. It provides several ethnic specific SNPs for further disease association studies of TLR4 polymorphisms in Chinese populations.

Comparative study of HLA-DQA1 and HLA-DRB1 allele in patients with endometriosis and adenomyosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To make a comparative study of HLA-DQA1 and HLA-DRB1 allele frequencies in the cases of endometriosis and adeonmyosis.</p><p><b>METHODS</b>The allelic types of HLA-DQA1 and HLA-DRB1 were detected by polymerase chain reaction-sequence specific primers (PCR-SSP) technique in 51 cases of endometriosis, 45 cases of adenomyosis, and 44 normal individuals as the control.</p><p><b>RESULTS</b>The frequencies of HLA-DQA1*0401(7.8%, 10.0%) were significantly increased in the endometriosis group and the adenomyosis group (Pc=0.03, Pc=0.01), and the frequencies of HLA-DQA1*0301(8.8%, 5.6%) were significantly decreased in these two groups (Pc=0.00, Pc=0.00).There was no significant difference between the frequencies of HLA-DQA1 and HLA-DRB1 of endometriosis and adenomyosis.</p><p><b>CONCLUSION</b>The results indicate that HLA-DQA1*0301 and *0401 alleles are associated with both endometriosis and adenomyosis, and there is perhaps common mechanism involved in both endometriosis and adenomyosis based on HLA-DQA1 and HLA-DRB1 allele frequencies.</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.

PCR-RFLP polymorphism of HLA-DQA1 in Yichu of north Yunnan province and compared with other Chinese groups / 中国免疫学杂志

Objective:To investigate HLA DQA1 alleles distribution in the Yichu of Yangbi county, Yunnan province, compared with other Chinese group Methods:PCR RFLP.Results: Of 8 DQA1 alleles studied, DQA1*0301 (allele frequency 31 63%) is the most common allele in this Yichu, and DQA1*0401 (1 02%) is the rarest Chi square test shows that Yangbi Yichu has no significant difference with six northern Han groups, Man, Singaporean and Uygurs of Xinjiang In contrast, Buyi, Dai and Taiwanese is much more complicated with a significant difference from other groups A similar observation was found in Guangdong Han and Guangxi Zhuang Similar to Kazak, Uygurs showed no significant difference with some of northern Han groups Tibetans have no significant difference with Kazaks and Singaporean Conclusion: DQA1 complexity of southern ethnic group is probably result of mutilple origin or stress of different environment Yangbi Yi ethnic group has characteristic of Northern group