A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

ABSTRACT:

Background

Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified.

Methods and results

Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P<0.01) were taken forward for genotyping in an independent replication cohort comprising 392 cases of TOF, 218 unaffecte

SUBMITTER: Goodship JA 

PROVIDER: S-EPMC4643453 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature