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

Jackson, Victoria E.; Ntalla, Ioanna; Sayers, Ian; Morris, Richard; Whincup, Peter; Casas, Juan-Pablo; Amuzu, Antoinette; Choi, Minkyoung; Dale, Caroline; Kumari, Meena; Engmann, Jorgen; Kalsheker, Noor; Chappell, Sally; Guetta-Baranes, Tamar; McKeever, Tricia M.; Palmer, Colin N.A.; Tavendale, Roger; Holloway, John W.; Sayer, Avan A.; Dennison, Elaine M.; Cooper, Cyrus; Bafadhel, Mona; Barker, Bethan; Brightling, Chris; Bolton, Charlotte E.; John, Michelle E.; Parker, Stuart G.; Moffat, Miriam F.; Wardlaw, Andrew J.; Connolly, Martin J.; Porteous, David J.; Smith, Blair H.; Padmanabhan, Sandosh; Hocking, Lynne; Stirrups, Kathleen E.; Deloukas, Panos; Strachan, David P.; Hall, Ian P.; Tobin, Martin D.; Wain, Louise V.

doi:10.1136/thoraxjnl-2015-207876

All Outputs (3)

Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33 (2016)
Journal Article

Late onset Alzheimer’s disease (LOAD), the most common cause of late onset dementia, has a strong genetic component. To date, 21 disease-risk loci have been identified through genome wide association studies (GWAS). However, the causative functional... Read More about Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33.

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2016)
Journal Article

We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals ha... Read More about Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 (2016)
Journal Article

Background Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. Objective To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated... Read More about Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.