Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension.

ABSTRACT:

Rationale

Analysis of the age of onset in heritable pulmonary arterial hypertension (HPAH) has led to the hypothesis that genetic anticipation causes younger age of onset and death in subsequent generations. With accrual of pedigree data over multiple decades, we retested this hypothesis using analyses that eliminate the truncation of data that exists with shorter duration of follow-up.

Objectives

To analyze the pedigrees of families with mutations in bone morphogenetic protein receptor type 2 (BMPR2), afflicted in two or more generations with HPAH, eliminating time truncation bias by including families for whom we have at least 57 years of data.

Methods

We analyzed 355 individuals with BMPR2 mutations from 53 families in the Vanderbilt Pulmonary Hypertension Registry

SUBMITTER: Larkin EK 

PROVIDER: S-EPMC3530218 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature