rs11159840 - HISLA
Magnitude 4.5 · 1 study on file
Reported associations
-
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. - Circulation. Cardiovascular genetics (2018) · Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell LE · PubMed 28468790
Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of congenital heart defects, but it is unclear whether individual common variants confer a large risk. To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies in 5 cohorts. Three cohorts were recruited at the Children's Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios, 317 left ventricular obstructive tract defect (LVOTD) case-parent trios, and 406 CTD cases (n=406) and 2976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-analyses using the genome-wide association stud
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
-
Cardiac evaluation for left ventricular outflow tract obstruction Moderate
Variant rs11159840 is associated with increased risk of inherited left ventricular obstructive tract defect (OR=1.611).
Discuss with a cardiologist; consider transthoracic echocardiography if not previously performed.