rs11623400 - CTSG

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects - Unknown journal (n.d.) · Unknown authors · PubMed 28468790

    ABSTRACT: Background Maternal and inherited (i.e., case) genetic factors likely contribute to the etiology of congenital heart defects, but it is unclear whether individual common variants confer a large risk. Methods and Results To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies (GWAS) in five 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 and 2,976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-ana


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.

Discuss with your doctor

  • maternal genetic risk in pregnancy planning Low

    Maternal rs11623400 genotype shows association with offspring conotruncal heart defects (OR 1.012 per allele, p=8e-6)

    If planning pregnancy, discuss with obstetrics provider