학술논문
Variants associated with HHIP expression have sex-differential effects on lung function [version 2; peer review: 2 approved]
Document Type
article
Author
Katherine A. Fawcett; Ma'en Obeidat; Carl Melbourne; Nick Shrine; Anna L. Guyatt; Catherine John; Jian'an Luan; Anne Richmond; Marta R. Moksnes; Raquel Granell; Stefan Weiss; Medea Imboden; Sebastian May-Wilson; Pirro Hysi; Thibaud S. Boutin; Laura Portas; Claudia Flexeder; Sarah E. Harris; Carol A. Wang; Leo-Pekka Lyytikäinen; Teemu Palviainen; Rachel E. Foong; Dirk Keidel; Cosetta Minelli; Claudia Langenberg; Yohan Bossé; Maarten Van den Berge; Don D. Sin; Ke Hao; Archie Campbell; David Porteous; Sandosh Padmanabhan; Blair H. Smith; David M. Evans; Sue Ring; Arnulf Langhammer; Kristian Hveem; Cristen Willer; Ralf Ewert; Beate Stubbe; Nicola Pirastu; Lucija Klaric; Peter K. Joshi; Karina Patasova; Mangino Massimo; Ozren Polasek; John M. Starr; Stefan Karrasch; Konstantin Strauch; Thomas Meitinger; Igor Rudan; Taina Rantanen; Kirsi Pietiläinen; Mika Kähönen; Olli T. Raitakari; Graham L. Hall; Peter D. Sly; Craig E. Pennell; Jaakko Kaprio; Terho Lehtimäki; Veronique Vitart; Ian J. Deary; Debbie Jarvis; James F. Wilson; Tim Spector; Nicole Probst-Hensch; Nicholas J. Wareham; Henry Völzke; John Henderson; David P. Strachan; Ben M. Brumpton; Caroline Hayward; Ian P. Hall; Martin D. Tobin; Louise V. Wain
Source
Wellcome Open Research, Vol 5 (2021)
Subject
Language
English
ISSN
2398-502X
Abstract
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