rs4646

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.

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 study evaluated the impact of population admixture on genetic association studies of type 2 diabetes and end-stage renal disease in African Americans using 70 ancestry informative markers (AIMs) genotyped in 577 cases and 596 controls. Eight T2DM candidate genes (TCF7L2, PPARG, CAPN10, KCNJ11, TCF1, HNF4A, ESR1, ENPP1) with 208 SNPs total were analyzed for association, with 47 SNPs (22.6%) nominally associated before admixture adjustment, but 9 of those (4% overall, 19% of associated SNPs) lost significance after adjusting for African ancestry. The admixture impact on association results was significantly correlated with absolute delta values (differences in allele frequencies between Yoruba and European populations) across dominant (r²=0.1997, P=0.0051), additive (r²=0.2662, P=0.0015), and recessive (r²=0.1735, P=0.0410) models.