{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:40:29Z","timestamp":1790617229259,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T00:00:00Z","timestamp":1519084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP\u201084438"],"award-info":[{"award-number":["MOP\u201084438"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in populations of East Asian or black African descent. New mutations for HD result from CAG repeat expansions of intermediate alleles (IAs), usually of paternal origin. The differing prevalence of HD may be related to the rate of new mutations in a population, but no comparative estimates of IA frequency or the HD new mutation rate are available. In this study, we characterize IA frequency and the CAG repeat distribution in fifteen populations of diverse ethnic origin. We estimate the HD new mutation rate in a series of populations using molecular IA expansion rates. The frequency of IAs was highest in Hispanic Americans and Northern Europeans, and lowest in black Africans and East Asians. The prevalence of HD correlated with the frequency of IAs by population and with the proportion of IAs found on the HD\u2010associated A1 haplotype. The HD new mutation rate was estimated to be highest in populations with the highest frequency of IAs. In European ancestry populations, one in 5,372 individuals from the general population and 7.1% of individuals with an expanded CAG repeat in the HD range are estimated to have a molecular new mutation. Our data suggest that the new mutation rate for HD varies substantially between populations, and that IA frequency and haplotype are closely linked to observed epidemiological differences in the prevalence of HD across major ancestry groups in different countries.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32618","type":"journal-article","created":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T18:50:18Z","timestamp":1519239018000},"page":"346-357","source":"Crossref","is-referenced-by-count":68,"title":["The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population"],"prefix":"10.1002","volume":"177","author":[{"given":"Chris","family":"Kay","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine Therapeutics University of British Columbia Vancouver BC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer 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Medicine and Dentistry University of Aberdeen Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Madore","sequence":"additional","affiliation":[{"name":"Molecular Biology Group Coriell Institute for Medical Research Camden, New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erynn S.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Molecular Biology Group Coriell Institute for Medical Research Camden, New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norman P.","family":"Gerry","sequence":"additional","affiliation":[{"name":"Molecular Biology Group Coriell Institute for Medical Research Camden, New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cornejo\u2010Olivas","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurologicas Lima 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