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Prevalence of carriers of intermediate and pathological polyglutamine disease–associated alleles

JAMA Jun 14, 2019

Gardiner SL, et al. - Via a cross-sectional study that included 14,196 participants from 5 European population-based cohort studies, the contributors intended to determine the prevalence of carriers of intermediate and pathological polyglutamine disease–associated alleles among the general population. No differences in sex, age, or body mass index between individuals with CAG repeat numbers within the pathological range and normal or intermediate range were found. Among the general population, a high prevalence of individuals carrying intermediate and pathological ranges of polyglutamine disease–associated alleles were indicated. Hence, a substantially larger proportion of individuals than previously estimated could be at risk of developing a polyglutamine disease later in life or bearing children with a de novo mutation.
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