ABSTRACT
PURPOSE: The aim of this study was to investigate the association of telomere length with breast cancer risk. We simultaneously explored the association between telomerase reverse transcriptase gene polymorphisms and telomere length. METHODS: We used real-time quantitative polymerase chain reaction to measure relative telomere length (RTL) in genomic DNA extracted from peripheral blood from 183 breast cancer cases and 191 healthy controls. Genotyping was performed using the Sequenom MassARRAY platform. RESULTS: Our results show that breast cancer patients had significantly shorter RTLs than control subjects (p 40 years (OR, 2.41; 95% CI, 1.31–4.43; p=0.005), body mass index ≤24 kg/m2 (OR, 2.81; 95% CI, 1.55–5.10; p=0.001), and postmenopausal women (OR, 3.94; 95% CI, 1.63–9.51; p=0.002), respectively. In addition, individuals with the AA genotype of rs2853677 have longer telomeres than those of breast cancer patients with the AG genotype (p=0.011). CONCLUSION: Our results suggest that shorter RTL was associated with an increased risk of breast cancer. An association was found between the AA genotype of rs2853677 and longer RTLs in the case group. Functional studies are warranted to validate this association and further investigate our findings.
Subject(s)
Female , Humans , Asian People , Body Mass Index , Breast Neoplasms , Breast , Case-Control Studies , DNA , Genotype , Polymerase Chain Reaction , Real-Time Polymerase Chain Reaction , Telomerase , TelomereABSTRACT
Objective To report the HLA data of volunteer donors of Chinese bank from Northwest China and characterize the distribution of HLA genes in Northwest China. Methods HLA-A, B antigens of 2315 volunteer donors were examined by the method of microlymphocytetoxicity (MLT) test .The antigen frequencies(AF) were assessed by directly counting; and based on that gene frequencies(GF) were calculated. HLA data from other population were collected and distribution characteristics were compared. With the raw data, Hardy-Weinberg equilibrium, statistical parameters of forensic medicine interest for HLA were computed. Results A total of 18 specific antigens were detected in HLA-A and the most frequent antigen was A2 . AF and GF were 0.5136 and 0.3026, respectively. A total of 42 specific antigens were detected in HLA-B and the most frequent antigen was A13. Its AF and GF were 0.1978 and 0.1044, respectively. The heterozygosity(H), polymorphism information content(PIC), discrimination power(DP) and probability of paternity exclusion (PPE) of HLA-A were 0.8215, 0.8212, 0.9356 and 0.7798 accordingly; while H,PIC, DP and PPE of HLA-B were 0.9322, 0.9322, 0.9878 and 0.9528. Conclusion The polymorphism of HLA-A,B genes is characteristic in Chinese. In this research, the genetic trait of HLA in 2315 volunteers is consistent with Northern Han population.
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Objective To discuss the genetic relationship between Chaoxian and the other populations with STR polymorphisms, and study the origination of Chaoxian with historical data, analyze the difference among them. Methods Samples were obtained from 91 unrelated individuals of Jilin province. PCR amplification was performed using PE9700, the results were analyzed with the GeneScan software and then using the Genetic Analyzer ABI377 and Genotyper2.5. Tests for Hardy Weinberg equilibrium (HWE) and the clustering map were carried out using SPSS11.5. The DA (genetic distance) according to Nei's was calculated and a phylogenetic tree based on the neighbor-joining method using Mega2 software package was constructed. Results 81 alleles and 196 genotypes were observed, with the corresponding frequencies ranging from 0.0055 to 0.4615 and 0.0110 to 0.2747, the observed and expected of genotypes were evaluated using χ2-test and all of the loci were in accordance with Hardy Weinberg equilibrium (P>0.05). Chaoxian was clustered with the other Chinese ethnic groups, then the American Black and the White; it was clustered with the Baishan Han, the Beijing Han of China first, then the South Korean. Conclusion The differentiation among races is larger than that among minorities, and, the differentiation among minorities is related to and is consistent with their geographic location.
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Objective To study the genetic relatio ns hips of 15 groups of Guangxi Province, China by using STR polymorphisms. Methods We collected the blood samples of unrelated individuals from different groups and s equenced the STR data with ABI377, and then analyzed all these data with statist ical methods. Results The study on 6 STR loci showed that Jing and Miao n ationalities of Guangxi Province were close to each other, while Yao, Gelao and Mulam nationalities of Guangxi were far from the other groups. Conclusi on The 15 different ethnic groups of Guangxi, China have gene commun ications.