rs10046

Case-control study of 167 preeclampsia patients and 115 healthy Bavarian controls examining associations between hormone pathway SNPs and preeclampsia risk. Found rs10895068 (G/A genotype) in the progesterone receptor gene significantly more frequent in preeclampsia cases (16% vs 6%, P=0.023). No significant associations observed for rs1042838, rs488133, rs10046, or rs4646.

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 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.

A pharmacogenetic study of 109 Korean patients with hormone receptor-positive metastatic breast cancer treated with letrozole found that three CYP19A1 SNP variants (rs700518, rs10459592, rs4775936) were associated with improved clinical benefit rate (OR = 2.45-2.61, P = 0.025-0.036). Haplotype analysis showed specific haplotypes M_1_3 and M_2_1 were strongly associated with better response (OR = 3.37-5.33) and improved time to progression, suggesting CYP19A1 polymorphisms may serve as predictive markers for aromatase inhibitor efficacy.

Population-based association study of 392 German men examining CYP19A1 and CYP3A4 polymorphisms in relation to benign prostatic hyperplasia (BPH) parameters. rs10046 heterozygotes showed higher PSA levels (2.0 vs 1.7 ng/ml, P=0.012), and CYP3A4 G allele carriers had smaller prostates (27.0 vs 32.1 ml, P=0.02) and lower PSA, though the latter lost significance after multiple testing correction.

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 population-based study of 4,470 breast cancer cases from the SEARCH cohort examined associations between germline polymorphisms in 6 steroid hormone metabolism genes (COMT, CYP19A1, ESR1, PGR, SULT1E1, STS) and survival after breast cancer diagnosis. A COMT polymorphism (rs4818) showed significant association with survival in a dominant model (HR=0.80, 95% CI: 0.69-0.95, p=0.009), though this was only marginally significant after permutation adjustment (p=0.047). No significant associations were found in the other genes studied.

Case-control study of 483 women investigating polymorphisms in estrogen metabolism and pathway genes associated with recurrent miscarriage. The CYP19A1 rs10046 C/C genotype showed significant association with increased risk of recurrent miscarriage (P=0.017), with women carrying T/T genotype experiencing multiple miscarriages in 11.7% of cases versus 3.3% for C/C genotype. No associations were found for other CYP19A1 variants (rs4646, rs700519) or ESR1 (rs3020314) and PGR (rs1042838) polymorphisms.

This association study identified significant associations between three CYP19A1 gene polymorphisms (rs17703883, rs12594287, rs16964201) and bone mineral density in 794 Chinese men from an extreme case-control design. Men with TC/CC genotypes at rs17703883 showed 1.5-fold increased risk of low femoral neck BMD (P=0.003), while rs12594287 AA/AG carriers showed 30% reduced risk (P=0.007) and rs16964201 TT/TC carriers showed 40% reduced risk of low femoral neck BMD (P=0.005). No significant associations were found in women.