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DOI 10.1038/ng.2637

Медицинская библиотека · Nature genetics · 2013

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

Cordell Heather J, Bentham Jamie, Topf Ana, Zelenika Diana, Heath Simon, Mamasoula Chrysovalanto, Cosgrove Catherine, Blue Gillian, Granados-Riveron Javier, Setchfield Kerry, Thornborough Chris, Breckpot Jeroen, Soemedi Rachel, Martin Ruairidh, Rahman Thahira J, Hall Darroch, van Engelen Klaartje, Moorman Antoon F M, Zwinderman Aelko H, Barnett Phil, Koopmann Tamara T, Adriaens Michiel E, Varro Andras, George Alfred L, dos Remedios Christobal, Bishopric Nanette H, Bezzina Connie R, O'Sullivan John, Gewillig Marc, Bu'Lock Frances A, Winlaw David, Bhattacharya Shoumo, Devriendt Koen, Brook J David, Mulder Barbara J M, Mital Seema, Postma Alex V, Lathrop G Mark, Farrall Martin, Goodship Judith A, Keavney Bernard D

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no region achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P = 9.5 × 10⁻⁷) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N = 340 cases), and this association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 × 10⁻⁵; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10⁻¹⁰). Genotype accounted for ~9% of the population-attributable risk of ASD.

Для цитирования: Cordell Heather J, Bentham Jamie, Topf Ana, Zelenika Diana, Heath Simon, Mamasoula Chrysovalanto, Cosgrove Catherine, Blue Gillian, Granados-Riveron Javier, Setchfield Kerry, Thornborough Chris, Breckpot Jeroen, Soemedi Rachel, Martin Ruairidh, Rahman Thahira J, Hall Darroch, van Engelen Klaartje, Moorman Antoon F M, Zwinderman Aelko H, Barnett Phil, Koopmann Tamara T, Adriaens Michiel E, Varro Andras, George Alfred L, dos Remedios Christobal, Bishopric Nanette H, Bezzina Connie R, O'Sullivan John, Gewillig Marc, Bu'Lock Frances A, Winlaw David, Bhattacharya Shoumo, Devriendt Koen, Brook J David, Mulder Barbara J M, Mital Seema, Postma Alex V, Lathrop G Mark, Farrall Martin, Goodship Judith A, Keavney Bernard D. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.. Nature genetics. 2013. DOI: 10.1038/ng.2637.

Предметные рубрики MeSH

Abnormalities, MultipleAnimalsCase-Control StudiesChromosomes, Human, Pair 4Cohort StudiesFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeart Defects, CongenitalHeart DiseasesHeart Septal Defects, AtrialHumansMaleMicePhenotype
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