rs3834129

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.

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.

This case-control study investigated three CASP8 gene promoter polymorphisms (rs3834129, rs3769821, and rs113686495) in relation to non-Hodgkin's lymphoma (NHL) in Chinese patients across two cohorts (Kunming n=64 cases/133 controls; Shanghai n=75 cases/107 controls). Found no statistically significant association between any of the three variants and NHL risk, and luciferase assays showed no functional difference in promoter activity between variant alleles, contradicting previous reports from other populations.

This association study of 377 Korean colorectal cancer patients examined 15 SNPs in 12 apoptosis-related genes as prognostic markers for survival after curative resection. RIPK1 rs2272990 (GA/AA genotype, HR=2.093, p=0.007) and CASP7 rs2227310 (GG genotype, HR=2.641, p=0.002) were significantly associated with worse disease-free survival in multivariate analysis, with similar associations for disease-specific survival. The polymorphisms showed stronger associations in colon cancer than rectal cancer.

This meta-analysis of 13 studies (8 publications) with 13,058 cases and 14,418 controls examined the association between CASP8 rs3834129 (-652 6N insertion/deletion) polymorphism and colorectal cancer (CRC) susceptibility. The heterozygous ID vs II genotype showed a statistically significant protective effect (OR=0.94, 95% CI=0.88-0.99), with stronger protection observed in Asian populations (OR=0.86, 95% CI=0.76-0.98). However, no significant associations were found in homozygous and allele models, indicating a weak protective effect overall.

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

A hospital-based case-control study of 805 cutaneous melanoma patients and 835 controls examined three functional polymorphisms in caspase-8 and caspase-10 genes. CASP8 D302H (rs1045485:G>C) and CASP8 -652 6N del (rs3834129:-/CTTACT) variant genotypes were associated with significantly lower melanoma risk (adjusted OR 0.70 and 0.74 respectively), while CASP10 I522L (rs13006529:A>T) showed no significant association. The D-del-I haplotype was associated with substantially reduced melanoma risk (OR 0.52).