Expressive

rs12128234 - ERRFI1-DT

Magnitude 2.0 · 2 studies on file

Reported associations

  • Using human genetics to understand the phenotypic association between chronotype and breast cancer. - Journal of sleep research (2024) · Wu X, Yang C, Zou Y, Jones SE, Zhao X, Zhang L, Han Z, Hao Y, Xiao J, Xiao C, Zhang W, Yan P, Cui H, Tang M, Wang Y, Chen L, Zhang L, Yao Y, Liu Z, Li J, Jiang X, Zhang B · PubMed 37380357

    Little is known regarding the shared genetic influences underlying the observed phenotypic association between chronotype and breast cancer in women. Leveraging summary statistics from the hitherto largest genome-wide association study conducted in each trait, we investigated the genetic correlation, pleiotropic loci, and causal relationship of chronotype with overall breast cancer, and with its subtypes defined by the status of oestrogen receptor. We identified a negative genomic correlation between chronotype and overall breast cancer ( = -0.06, p = 3.00 × 10 ), consistent across oestrogen receptor-positive ( = -0.05, p = 3.30 × 10 ) and oestrogen receptor-negative subtypes ( = -0.05, p = 1.11 × 10 ). Five specific genomic regions were further identified

  • Tissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancer - Unknown journal (n.d.) · Unknown authors · PubMed 38640244

    ABSTRACT: It remains unknown whether adiposity subtypes are differentially associated with colorectal cancer (CRC). To move beyond single-trait anthropometric indicators, we derived four multi-trait body shape phenotypes reflecting adiposity subtypes from principal components analysis on body mass index, height, weight, waist-to-hip ratio, and waist and hip circumference. A generally obese (PC1) and a tall, centrally obese (PC3) body shape were both positively associated with CRC risk in observational analyses in 329,828 UK Biobank participants (3728 cases). In genome-wide association studies in 460,198 UK Biobank participants, we identified 3414 genetic variants across four body shapes and Mendelian randomization analyses confirmed positive associations of PC1 and PC3 with CRC risk (52,77

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