rs3025039

This case-control study of 69 acute mountain sickness (AMS) patients and 95 matched acclimated Han Chinese individuals investigated five SNPs in hypoxia-related genes. The HSPA1A rs1008438 polymorphism showed a significant association with AMS susceptibility (OR = 0.36, 95% CI: 0.14–0.92 in the additive model), suggesting it may be a Han-specific genetic risk factor for AMS development.

A comprehensive meta-analysis of 50 case-control studies from the Indian subcontinent identified genetic variants modifying lung cancer risk, finding FDR-corrected associations for rs3547/XRCC1 (OR=1.83-2.72) and rs1048943/CYP1A1 (OR=2.07). The rs1048943/CYP1A1 variant showed strongest associations with adenocarcinoma (OR=3.38) and squamous cell carcinoma (OR=3.53) with significant effect modification by smoking status. Global meta-analysis confirmed rs1048943/CYP1A1 association across world populations (OR=1.22, p=0.01).

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.

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.

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.

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

This case-control association study examined genetic polymorphisms in 237 Russian women to identify variants associated with early reproductive loss and recurrent miscarriage. The study found that DNMT3B rs2424913 (OR=4.44-4.78), DNMT1 rs2228611 (OR=3.0-3.94), and DNMT1 rs8101626 (OR=2.5-3.1) were significantly associated with increased risk of sporadic and recurrent early pregnancy loss, while SYCP3 rs769825641 heterozygotes showed elevated risk of sporadic miscarriage.

Case-control study of 766 glioma patients and 824 controls from a Chinese population investigating associations between 9 VEGFA gene polymorphisms and glioma risk. Three SNPs showed suggestive associations: rs2010963 (OR=1.29, 95% CI 1.04-1.58), rs3025030 (OR=2.21, 95% CI 1.18-4.14), and rs3024994 (protective, OR=0.66, 95% CI 0.47-0.94). A notable cumulative effect was observed with each additional adverse genotype increasing glioma risk 1.38-fold (p=8.4×10⁻⁵).

This candidate gene association study examined 218 postmenopausal women at high breast cancer risk, testing 79 SNPs in steroid metabolism, receptor, cell cycle control, DNA repair, and carcinogen metabolism genes for associations with abnormal breast tissue cytomorphology (RPFNA atypia) as a biomarker for HRT-related breast cancer risk. Key findings: RAD54 Gln929Glu (rs3088074, OR=1.74), TFR Gly142Ser (rs3817672, OR=1.98, p=0.0025), VEGF 3'UTR (rs3025039, OR=2.12), and ACE I/D (rs4646994, OR=0.55) were associated with RPFNA atypia. RAD23B Ala249Val (rs1805329) showed strongest association with worsening cytomorphology on HRT versus off HRT (p=0.0009) and ERCC1 3'UTR (rs3212986) was borderline significant (p=0.0015). Results suggest DNA repair gene polymorphisms may modify breast tissue response to exogenous estrogens.

This case-control study of 450 Korean colorectal cancer (CRC) patients and 400 controls investigated the association of three VEGF 3'-UTR polymorphisms (rs3025040, rs10434, rs3025053) with CRC susceptibility and metabolic syndrome. VEGF 1451C>T (rs3025040) was significantly associated with rectal cancer risk (AOR=1.58, p=0.015), while VEGF 1725G>A (rs3025053) correlated with metabolic syndrome risk (AOR=1.61, p=0.026). Gene-environment interaction analyses revealed that VEGF 1451C>T combined with metabolic syndrome increased rectal cancer risk (AOR=3.15, p<0.001), and VEGF 1725G>A with metabolic syndrome elevated colon cancer risk (AOR=2.68, p=0.008).

In 167 gastric cancer patients, TGFB1 +915 CG/CC genotypes were associated with poorer 2-year survival (adjusted HR 3.06, 95% CI 1.09-8.62, P=0.034) and VEGF -634 CG heterozygotes showed poorer 1-year survival (adjusted HR 2.08, 95% CI 1.03-4.22, P=0.042). No significant associations were found for overall survival with other TGFB1 polymorphisms. The study was limited by small sample size and lacked data on Helicobacter pylori infection status.