Matches in SemOpenAlex for { <https://semopenalex.org/work/W4229015963> ?p ?o ?g. }
- W4229015963 endingPage "e1010147" @default.
- W4229015963 startingPage "e1010147" @default.
- W4229015963 abstract "Phenotypic differences across sexes are pervasive, but the genetic architecture of sex differences within and across phenotypes is mostly unknown. In this study, we aimed to improve detection power for sex-differentially contributing SNPs previously demonstrated to be enriched in disease association, and we investigate their functions in health, pathophysiology, and genetic function. We leveraged GIANT and UK Biobank summary statistics and defined a set of 2,320 independent SNPs having sexually dimorphic effects within and across biometric traits (MAF > 0.001, P < 5x10-8). Biometric trait sex-heterogeneous SNPs (sex-het SNPs) showed enrichment in association signals for 20 out of 33 diseases/traits at 5% alpha compared to sex-homogeneous matched SNPs (empP < 0.001), and were significantly overrepresented in muscle, skeletal and stem cell development processes, and in calcium channel and microtubule complexes (FDR < 0.05, empP < 0.05). Interestingly, we found that sex-het SNPs significantly map to predicted expression quantitative trait loci (Pr-eQTLs) across brain and other tissues, methylation quantitative trait loci (meQTLs) during development, and transcription start sites, compared to sex-homogeneous SNPs. Finally, we verified that the sex-het disease/trait enrichment was not explained by Pr-eQTL enrichment alone, as sex-het Pr-eQTLs were more enriched than matched sex-homogeneous Pr-eQTLs. We conclude that genetic polymorphisms with sexually dimorphic effects on biometric traits not only contribute to fundamental embryogenic processes, but later in life play an outsized role in disease risk. These sex-het SNPs disproportionately influence gene expression and have a greater influence on disorders of body and brain than other expression-regulatory variation. Together, our data emphasize the genetic underpinnings of sexual dimorphism and its role in human health." @default.
- W4229015963 created "2022-05-08" @default.
- W4229015963 creator A5056862358 @default.
- W4229015963 creator A5064212109 @default.
- W4229015963 creator A5071200208 @default.
- W4229015963 date "2022-05-05" @default.
- W4229015963 modified "2023-10-12" @default.
- W4229015963 title "Sex-heterogeneous SNPs disproportionately influence gene expression and health" @default.
- W4229015963 cites W1598838718 @default.
- W4229015963 cites W1844405070 @default.
- W4229015963 cites W1921440755 @default.
- W4229015963 cites W2019983262 @default.
- W4229015963 cites W2045227722 @default.
- W4229015963 cites W2051314902 @default.
- W4229015963 cites W2073640336 @default.
- W4229015963 cites W2083830648 @default.
- W4229015963 cites W2133009026 @default.
- W4229015963 cites W2135993011 @default.
- W4229015963 cites W2153118028 @default.
- W4229015963 cites W2164531600 @default.
- W4229015963 cites W2168712092 @default.
- W4229015963 cites W2256016639 @default.
- W4229015963 cites W2316537321 @default.
- W4229015963 cites W2409897253 @default.
- W4229015963 cites W2544485223 @default.
- W4229015963 cites W2546877058 @default.
- W4229015963 cites W2555566824 @default.
- W4229015963 cites W2564431371 @default.
- W4229015963 cites W2738082385 @default.
- W4229015963 cites W2750248999 @default.
- W4229015963 cites W2766265190 @default.
- W4229015963 cites W2770092353 @default.
- W4229015963 cites W2780560743 @default.
- W4229015963 cites W2792709813 @default.
- W4229015963 cites W2802815532 @default.
- W4229015963 cites W2809193491 @default.
- W4229015963 cites W2883573930 @default.
- W4229015963 cites W2883622734 @default.
- W4229015963 cites W2891274161 @default.
- W4229015963 cites W2895828124 @default.
- W4229015963 cites W2896958236 @default.
- W4229015963 cites W2906199739 @default.
- W4229015963 cites W2909486692 @default.
- W4229015963 cites W2915402738 @default.
- W4229015963 cites W2916749909 @default.
- W4229015963 cites W2917071648 @default.
- W4229015963 cites W2921400779 @default.
- W4229015963 cites W2921543248 @default.
- W4229015963 cites W2934565342 @default.
- W4229015963 cites W2946625328 @default.
- W4229015963 cites W2947278243 @default.
- W4229015963 cites W2950625872 @default.
- W4229015963 cites W2952883732 @default.
- W4229015963 cites W2960372990 @default.
- W4229015963 cites W2973820537 @default.
- W4229015963 cites W2995971356 @default.
- W4229015963 cites W2999230481 @default.
- W4229015963 cites W3023526808 @default.
- W4229015963 cites W3046013264 @default.
- W4229015963 cites W3120409306 @default.
- W4229015963 cites W3136867187 @default.
- W4229015963 cites W3162259891 @default.
- W4229015963 cites W3198822349 @default.
- W4229015963 cites W4225308094 @default.
- W4229015963 doi "https://doi.org/10.1371/journal.pgen.1010147" @default.
- W4229015963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35511767" @default.
- W4229015963 hasPublicationYear "2022" @default.
- W4229015963 type Work @default.
- W4229015963 citedByCount "3" @default.
- W4229015963 countsByYear W42290159632022 @default.
- W4229015963 countsByYear W42290159632023 @default.
- W4229015963 crossrefType "journal-article" @default.
- W4229015963 hasAuthorship W4229015963A5056862358 @default.
- W4229015963 hasAuthorship W4229015963A5064212109 @default.
- W4229015963 hasAuthorship W4229015963A5071200208 @default.
- W4229015963 hasBestOaLocation W42290159631 @default.
- W4229015963 hasConcept C104317684 @default.
- W4229015963 hasConcept C105083479 @default.
- W4229015963 hasConcept C106208931 @default.
- W4229015963 hasConcept C134018914 @default.
- W4229015963 hasConcept C135763542 @default.
- W4229015963 hasConcept C153209595 @default.
- W4229015963 hasConcept C168393362 @default.
- W4229015963 hasConcept C186413461 @default.
- W4229015963 hasConcept C54355233 @default.
- W4229015963 hasConcept C81941488 @default.
- W4229015963 hasConcept C86803240 @default.
- W4229015963 hasConcept C9287583 @default.
- W4229015963 hasConceptScore W4229015963C104317684 @default.
- W4229015963 hasConceptScore W4229015963C105083479 @default.
- W4229015963 hasConceptScore W4229015963C106208931 @default.
- W4229015963 hasConceptScore W4229015963C134018914 @default.
- W4229015963 hasConceptScore W4229015963C135763542 @default.
- W4229015963 hasConceptScore W4229015963C153209595 @default.
- W4229015963 hasConceptScore W4229015963C168393362 @default.
- W4229015963 hasConceptScore W4229015963C186413461 @default.
- W4229015963 hasConceptScore W4229015963C54355233 @default.
- W4229015963 hasConceptScore W4229015963C81941488 @default.