0000000000460997

AUTHOR

Carl A. Melbourne

showing 2 related works from this author

SNPs associated withHHIPexpression have differential effects on lung function in males and females

2019

AbstractAdult lung function is highly heritable and 279 genetic loci were recently reported as associated with spirometry-based measures of lung function. Though lung development and function differ between males and females throughout life, there has been no genome-wide study to identify genetic variants with differential effects on lung function in males and females. Here, we present the first genome-wide genotype-by-sex interaction study on four lung function traits in 303,612 participants from the UK Biobank. We detected five SNPs showing genome-wide significant (P<5 × 10−8) interactions with sex on lung function, as well as 21 suggestively significant interactions (P<1 × 10−6). T…

Spirometry0303 health sciencesCOPDmedicine.medical_specialtyLungmedicine.diagnostic_testSingle-nucleotide polymorphismBiologymedicine.disease03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureEndocrinology030228 respiratory systemInternal medicinemedicineSNPAlleleBeta (finance)Lung function030304 developmental biology
researchProduct

Variants associated with HHIP expression have sex-differential effects on lung function

2021

Background: Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. Methods: We tested for interactions between 7,745,864 variants and sex on spirometry-based measures of lung function in UK Biobank (N=303,612), and sought replication in 75,696 independent individuals from the SpiroMeta consortium. Results: Five independent single-nucleotide polymorphisms (SNPs) showed genome-wide significant (P<5x10-8) interactions with sex …

0301 basic medicineSpirometrymedicine.medical_specialtyHHIPMedicine (miscellaneous)Expression ; Genome-wide Interaction Study ; Hhip ; Lung Function ; SexSingle-nucleotide polymorphismBiology3121 Internal medicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineExpression ; Genome-wide interaction study ; HHIP ; Lung function ; SexInternal medicineexpressionmedicinesexAlleleEnhancerGeneLung functionLunggenome-wide interaction studymedicine.diagnostic_test1184 Genetics developmental biology physiologylung functionALSPAC/dk/atira/pure/core/keywords/alspacDifferential effects030104 developmental biologyEndocrinologymedicine.anatomical_structure030228 respiratory system3121 General medicine internal medicine and other clinical medicine3111 Biomedicine
researchProduct