SLC6A4 gene L/S polymorphism and susceptibility to pulmonary arterial hypertension: a meta-analysis.

OBJECTIVE: To investigate the association between the solute carrier family 6 member 4 (SLC6A4) gene L/S polymorphism and pulmonary arterial hypertension (PAH). METHODS: The relevant literature was retrieved from the PubMed® database and the data were extracted. STATA® version 12.0 software was used to calculate pooled odds ratios (ORs) and 95% confidence intervals (CI). RESULTS: Eight case-control studies qualified for inclusion in the meta-analysis. These studies included 1215 cases and 936 control subjects. There was no significant association between the SLC6A4 gene L/S polymorphism and PAH risk in the total population (LL versus SS: OR 1.83, 95% CI 0.95, 3.51; LS versus SS: OR 1.37, 95% CI 0.93, 2.02; dominant model: OR 1.38, 95% CI 0.97, 1.97; recessive model: OR 1.54, 95% CI 0.84, 2.83). Subgroup analysis based on study quality scores and Hardy-Weinberg equilibrium also showed no significant association. CONCLUSION: The findings of this meta-analysis suggest that the SLC6A4 gene L/S polymorphism is unlikely to be related to PAH risk. Well-designed studies with more participants will be required to validate these results.

Association between BRCA1 polymorphisms rs799917 and rs1799966 and breast cancer risk: a meta-analysis.

BACKGROUND: Several studies have reported correlations between BRCA1 polymorphisms rs799917 and rs1799966 with the risk of breast cancer (BC). However, this relationship remains controversial. METHODS: We conducted a meta-analysis of seven studies to assess the associations between BRCA1 rs799917 and rs1799966 and BC risk, with the aim of more accurately determining the potential correlation. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated to evaluate the correlation of rs799917 and rs1799966 with BC risk. RESULTS: There was no overall correlation between BRCA1 rs799917 and BC risk (TT vs CC: OR = 0.87, 95% CI = 0.66-1.16; CT vs CC: OR = 1.02, 95% CI = 0.89-1.15; dominant model: OR = 0.99, 95% CI = 0.88-1.11; recessive model: OR = 0.87, 95% CI = 0.65-1.16). Subgroup analysis by ethnicity also revealed no significant correlation between rs799917 and BC risk in either Asians or Caucasians. There was also no significant association between BRCA1 rs1799966 and BC risk (GG vs AA: OR = 0.70, 95% CI = 0.33-1.47; AG vs AA: OR = 0.68, 95% CI = 0.35-1.30; dominant model: OR = 0.76, 95% CI = 0.49-1.06; recessive model: OR = 0.82, 95% CI = 0.49-1.36). CONCLUSION: BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.