PURPOSE: To investigate whether the G6721T polymorphism (rs.7003908) of the non-homologous end-joining DNA repair XRCC7 gene contributes to the development of exudative age-related macular degeneration (ARMD). METHODS: The present case-control study consisted of 111 patients with exudative ARMD and 112 sex frequency-matched healthy controls that were randomly selected from unrelated volunteers in the same clinic. Genotypes were determined by the Restriction Fragment Length Polymorphism (PCR-RFLP) based method. Logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for ARMD risk associated with polymorphism of XRCC7. In all analysis the GG genotype was considered to be the reference genotype. RESULTS: There was no significant association between genotypes of XRCC7 and susceptibility to ARMD. Considering the significant difference in age distribution between cases and controls, age was used as a covariate in further analysis. After ORs were adjusted for age, the same result was observed. In the next step we stratified our subjects into outdoor and indoor groups according to their job titles. The outdoor and indoor patients were occupationally exposed to sunlight and not exposed to sunlight, respectively. Our present study showed that among indoor subjects there was no association between XRCC7 polymorphism and susceptibility to ARMD. However, among outdoor subjects, the GT + TT genotypes compared to the GG genotype increased the risk of ARMD (OR, 3.13; 95% CI, 1.04-9.39; p = 0.042). CONCLUSIONS: Our study revealed that the T allele of the G6721T polymorphism of XRCC7 increased the risk of ARMD among outdoor subjects.
Aged ; DNA/*genetics ; DNA-Activated Protein Kinase/*genetics/metabolism ; *Environmental Exposure ; Exudates and Transudates ; Female ; Follow-Up Studies ; *Genetic Predisposition to Disease ; Genotype ; Humans ; Macular Degeneration/*genetics/metabolism ; Male ; Middle Aged ; Nuclear Proteins/*genetics/metabolism ; Polymerase Chain Reaction ; *Polymorphism, Genetic ; Retrospective Studies ; Risk Factors

No abstract available.
Asian Continental Ancestry Group/*genetics ; DNA-Binding Proteins/*genetics ; Female ; Humans ; Male ; Thyroid Neoplasms/*genetics

No abstract available.
Child, Preschool ; Humans ; Pediatric Obesity

PURPOSE: Apolipoprotein E (APOE, MIM: 107741) has three functionally distinct isoforms of the protein (E2, E3, and E4), encoded by corresponding alleles epsilon2, epsilon3, and epsilon4, which have been well described. Findings from previous studies investigating association between APOE polymorphisms and breast cancer risk have been inconsistent. The present meta-analysis was conducted in order to investigate association of APOE polymorphisms with risk of breast cancer. MATERIALS AND METHODS: Several electronic databases were used for identification of studies containing information on APOE polymorphisms and breast cancer risk published up to January 2012. We identified 10 eligible studies, including 3,835 subjects (2008 patients, and 1,827 healthy controls), that reported on polymorphisms of APOE and risk of breast cancer. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were obtained using a fixed and random-effects models. RESULTS: Among studies reported from Asia, an association of the epsilon4 allele with increased risk of breast cancer, in comparison with the epsilon3 allele, was observed (OR, 1.56; 95% CI, 1.19 to 2.04; p=0.001). It should be noted that allele epsilon2 showed no association with breast cancer risk. Among Caucasians, neither the epsilon4 (OR, 0.99; 95% CI, 0.83 to 1.17; p=0.917) nor the epsilon2 (OR, 0.92; 95% CI, 0.72 to 1.17; p=0.514) allele showed an association with susceptibility to breast cancer, when compared with the epsilon3 allele. Carriers of the epsilon4 allele (E4E4, E4E3, and E4E2 genotypes), in comparison with the E3E3 genotype, showed an association with elevated risk of breast cancer only among Asians (OR, 1.75; 95% CI, 1.23 to 2.47; p=0.002). No publication bias was detected. CONCLUSION: This meta-analysis suggest that the APOEepsilon4 allele is a low-penetrant risk factor for development of breast cancer.
Alleles ; Apolipoproteins ; Apolipoproteins E ; Asia ; Asian Continental Ancestry Group ; Breast ; Breast Neoplasms ; Disease Susceptibility ; Electronics ; Electrons ; Genotype ; Humans ; Odds Ratio ; Protein Isoforms ; Publication Bias ; Risk Factors