rs1570360

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

This retrospective cohort study of 121 metastatic renal cell carcinoma (mRCC) patients treated with sunitinib evaluated 10 SNPs in angiogenesis-related genes (VEGFA, VEGFR1, VEGFR2, VEGFR3) as prognostic markers. Kaplan-Meier and Cox regression analyses identified rs9582036 in VEGFR1 (AA/AC genotypes vs CC wild-type) as significantly associated with improved overall survival (HR=0.241, p=0.018), while rs699947 in VEGFA showed associations with progression-free survival. No significant associations were found between SNPs and sunitinib-induced adverse effects (hand-foot syndrome, hypertension) after multiple testing correction.

A case-control study of 79 Brazilian women with pre-eclampsia/eclampsia and 210 controls investigated genetic polymorphisms in VEGF (G-634C) and IL1A (rs3783550). No significant association was found for VEGF G-634C with pre-eclampsia. However, the IL1A rs3783550 polymorphism showed significant association (p=0.0278), with the AA genotype more frequent in pre-eclamptic women and the C allele protective (OR=0.271, 95% CI 0.096-0.762, p=0.013).

This pharmacogenetic study examined how VEGFA gene polymorphisms affect antihypertensive responses to enalapril in 102 hypertensive patients. The g.-2578C>A (rs699947) AA genotype and AGG haplotype were associated with greater blood pressure reduction (20-22 mmHg greater mean BP decrease at 20 mg/day dose), while the CC genotype and CGG haplotype showed blunted responses. The findings suggest VEGFA polymorphisms modulate ACE inhibitor efficacy through effects on VEGF expression and vasodilation.

A case-control study of 1555 colon and 754 rectal cancer cases examined genetic variation in VEGFA, FLT1, and KDR genes. FLT1 was significantly associated with colon cancer risk (P_ARTP=0.045) and VEGFA with rectal cancer (P_ARTP=0.036). Multiple SNPs were associated with tumor molecular phenotypes (CIMP+, MSI+, TP53 mutations), and aspirin/NSAID use, smoking, and BMI modified these associations.

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

Comprehensive review evaluating SNPs as genetic predictors of choroidal neovascularization (CNV) response to photodynamic therapy with verteporfin (PDT-V). The paper examines pharmacogenetic correlations for thrombo-coagulative pathway variants (MTHFR rs1801133, F5 rs6025, F2 rs1799963, F13A1 rs5985), complement/inflammatory variants (CFH, HTRA1, CRP, ARMS2), and VEGFA variants (rs699947, rs2146323), concluding that specific SNPs show clinical plausibility as markers to optimize PDT-V efficacy and guide therapeutic approaches in neovascular macular degeneration.

This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.