Expressive

rs10849937 - CUX2 - PHETA1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Sex-specific genetic architecture of blood pressure. - Nature medicine (2024) · Yang ML, Xu C, Gupte T, Hoffmann TJ, Iribarren C, Zhou X, Ganesh SK · PubMed 38459180

    The genetic and genomic basis of sex differences in blood pressure (BP) traits remain unstudied at scale. Here, we conducted sex-stratified and combined-sex genome-wide association studies of BP traits using the UK Biobank resource, identifying 1,346 previously reported and 29 new BP trait-associated loci. Among associated loci, 412 were female-specific (P ≤ 5 × 10 ; P > 5 × 10 ) and 142 were male-specific (P ≤ 5 × 10 ; P > 5 × 10 ); these sex-specific loci were enriched for hormone-related transcription factors, in particular, estrogen receptor 1. Analyses of gene-by-sex interactions and sexually dimorphic effects identified four genomic regions, showing female-specific associations with diastolic BP or pulse pressure, including the chromosome 13q34-COL4A1/

  • Ordered Multinomial Regression for Genetic Association Analysis of Ordinal Phenotypes at Biobank Scale - Unknown journal (n.d.) · Unknown authors · PubMed 31879980

    ABSTRACT: Logistic regression is the primary analysis tool for binary traits in genome-wide association studies (GWAS). Multinomial regression extends logistic regression to multiple categories. However, many phenotypes more naturally take ordered, discrete values. Examples include (1) subtypes defined from multiple sources of clinical information and (2) derived phenotypes generated by specific phenotyping algorithms for electronic health records (EHR). GWAS of ordinal traits have been problematic. Dichotomizing can lead to a range of arbitrary cutoff values, generating inconsistent, hard to interpret results. Using multinomial regression ignores trait value hierarchy and potentially loses power. Treating ordinal data as quantitative can lead to misleading inference. To address these issu

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