Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

ABSTRACT:

Background

Considerable interest exists in the identification of genetic modifiers of disease severity in the long-QT syndrome (LQTS) as their identification may contribute to refinement of risk stratification.

Methods and results

We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring different mutations in KCNH2. We analyzed 1201 SNPs in and around 18 candidate genes, and in another approach investigated 22 independent SNPs previously identified as modulators of QTc-interval in genome-wide association studies in the general population. In an analysis for quantitative effects on the QTc-interval, 3 independent SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.

SUBMITTER: Kolder ICRM 

PROVIDER: S-EPMC4770255 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature