Expressive

rs11749176 - RNU6-381P - FGF10

Magnitude 4.5 · 2 studies on file

Reported associations

  • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses - Unknown journal (n.d.) · Unknown authors · PubMed 32424353

    ABSTRACT: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10−8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate (FDR) <0.05). Five loci showed associations (P<0.05) in opposite directions betwe

  • Family-based Association Analyses of Imputed Genotypes Reveal Genome-Wide Significant Association of Alzheimer's disease with OSBPL6, PTPRG and PDCL3 - Unknown journal (n.d.) · Unknown authors · PubMed 26830138

    ABSTRACT: The genetic basis of Alzheimer's disease (AD) is complex and heterogeneous. Over 200 highly penetrant pathogenic variants in the genes APP, PSEN1 and PSEN2 cause a subset of early-onset familial Alzheimer's disease (EOFAD). On the other hand, susceptibility to late-onset forms of AD (LOAD) is indisputably associated to the ε4 allele in the gene APOE, and more recently to variants in more than two-dozen additional genes identified in the large-scale genome-wide association studies (GWAS) and meta-analyses reports. Taken together however, although the heritability in AD is estimated to be as high as 80%, a large proportion of the underlying genetic factors still remain to be elucidated. In this study we performed a systematic family-based genome-wide association and meta-analysis

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