Expressive

rs1017226 - MAP3K1

Magnitude 2.2 · 2 studies on file

Reported associations

  • A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age - Unknown journal (n.d.) · Unknown authors · PubMed 24493630

    ABSTRACT: Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 SNPs among a discovery set of 3,523 EOBC incident case and 2,702 population control women aged <=51 years. The SNPs with smallest P-values were examined in a replication set of 3,470 EOBC case and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P-values to obtain a gene-based P-value. We examined the gene with smallest P-value for replication in 1,145 breast cancer case and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P<4×10−8) located in six genomic regi

  • Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans - Unknown journal (n.d.) · Unknown authors · PubMed 25811787

    ABSTRACT: We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, overweight and obese individuals, and regression-type analyses in a non BMI-stratified overall sample were performed. The former did not uncover any novel locus with a major main effect, but supported modulation of effects for some known and potentially new urate loci. The latter highlighted a SNP at RBFOX3 reaching genome-wide significant level (effect size 0.014, 95% CI 0.008-0.02, Pinter= 2.6 x 10-8). Two top loci in interaction term analyses, RBFOX3 and ERO1LB-EDARADD, also displayed suggestive differences in main effect size between the lean and obese stra

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Genetic counseling for breast cancer risk stratification High

    rs1017226 is a replicated genome-wide significant susceptibility locus for early-onset breast cancer requiring expert risk assessment and surveillance planning

    Referral to genetic counselor or breast cancer specialist

Screening

  • Enhanced breast cancer screening from age 30-40 High

    rs1017226 is associated with 1.33-fold increased risk of early-onset breast cancer in replicated GWAS; earlier detection improves treatment outcomes

    Discuss with physician about baseline mammography or MRI starting age 30-40 based on individual risk assessment