Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Victoria E JacksonIoanna NtallaIan SayersRichard MorrisPeter WhincupJuan-Pablo CasasAntoinette AmuzuMinkyoung ChoiCaroline DaleMeena KumariJorgen EngmannNoor KalshekerSally ChappellTamar Guetta-BaranesTricia M McKeeverColin N A PalmerRoger TavendaleJohn W HollowayAvan A SayerElaine M DennisonCyrus CooperMona BafadhelBethan BarkerChris BrightlingCharlotte E BoltonMichelle E JohnStuart G ParkerMiriam F MoffatAndrew J WardlawMartin J ConnollyDavid J PorteousBlair H SmithSandosh PadmanabhanLynne HockingKathleen E StirrupsPanos DeloukasDavid P StrachanIan P HallMartin D TobinLouise V Wain

Published in: Thorax (2016)

This study identified several associations with the risk of COPD and severity of airflow limitation, including novel regions MOCS3, IFIT3 and SERPINA12, which warrant further study.

Keyphrases

chronic obstructive pulmonary disease
lung function
gene expression
air pollution