Huntington disease reduced penetrance alleles occur at high frequency in the general population.

ABSTRACT:

Objective

To directly estimate the frequency and penetrance of CAG repeat alleles associated with Huntington disease (HD) in the general population.

Methods

CAG repeat length was evaluated in 7,315 individuals from 3 population-based cohorts from British Columbia, the United States, and Scotland. The frequency of ≥36 CAG alleles was assessed out of a total of 14,630 alleles. The general population frequency of reduced penetrance alleles (36-39 CAG) was compared to the prevalence of patients with HD with genetically confirmed 36-39 CAG from a multisource clinical ascertainment in British Columbia, Canada. The penetrance of 36-38 CAG repeat alleles for HD was estimated for individuals ≥65 years of age and compared against previously reported clinical penetrance estimates.

R

SUBMITTER: Kay C 

PROVIDER: S-EPMC4955276 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature