{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:32:14Z","timestamp":1774935134914,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T00:00:00Z","timestamp":1571270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81125009"],"award-info":[{"award-number":["81125009"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Huntington's disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> gene in the Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 406 individuals with <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> and 59 normal relatives from 253 families with <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> were enrolled. A total of 29 tag\u00a0single nucleotide polymorphisms (t<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) were selected and genotyped for the haplotype analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In stage one, we used 18 <jats:styled-content style=\"fixed-case\">tSNP<\/jats:styled-content>s to replicate the distribution of three major haplogroups (A, B, C). We found that risk\u2010associated haplogroup variants A1 and A2, enriched on Caucasian <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> chromosomes, were totally absent from both Chinese <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> and control chromosomes, and the distributions of haplogroups between <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> and control chromosomes were similar. Therefore, in stage two, we used 29 <jats:styled-content style=\"fixed-case\">tSNP<\/jats:styled-content>s (including the18 <jats:styled-content style=\"fixed-case\">tSNP<\/jats:styled-content>s) to define new haplogroups (I, <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> III<\/jats:styled-content>) and found that haplogroup I accounted for 61.4% on <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> chromosomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first haplotype analysis encompassing <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> in the Chinese population. The results contribute to explaining the low prevalence of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> in China and provide a better understanding of genetic diversity in the <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> region.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14072","type":"journal-article","created":{"date-parts":[[2019,8,24]],"date-time":"2019-08-24T13:14:33Z","timestamp":1566652473000},"page":"273-279","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Haplotype analysis encompassing <i><scp>HTT<\/scp><\/i> gene in Chinese patients with Huntington's disease"],"prefix":"10.1111","volume":"27","author":[{"given":"X.\u2010Y.","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010L.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010R.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.\u2010R.","family":"Gan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology First Affiliated Hospital Fujian Medical University Fuzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.\u2010J.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology Huashan Hospital Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-9204","authenticated-orcid":false,"given":"J.\u2010M.","family":"Burgunder","sequence":"additional","affiliation":[{"name":"Swiss Huntington\u2019s Disease Centre, Siloah, G\u00fcmligen and Department of Neurology, University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2106-572X","authenticated-orcid":false,"given":"Z.\u2010Y.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"},{"name":"Joint Institute for Genetics and Genome Medicine between Zhejiang University and University of Toronto Zhejiang University Hangzhou China"},{"name":"CAS Center for Excellence in Brain Science and Intelligence Technology Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199405193302001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60111-1"},{"key":"e_1_2_7_4_1","first-page":"506","article-title":"Huntington disease: genetics and epidemiology","volume":"36","author":"Conneally PM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000109899"},{"key":"e_1_2_7_6_1","first-page":"43","article-title":"Huntington's disease in Hong Kong Chinese: epidemiology and 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