{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:06:18Z","timestamp":1790269578391,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T00:00:00Z","timestamp":1473811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004829","name":"Department of Science and Technology of Sichuan Province","doi-asserted-by":"publisher","award":["2013SZ0003"],"award-info":[{"award-number":["2013SZ0003"]}],"id":[{"id":"10.13039\/501100004829","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":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Recently, mutations in the coiled\u2010coil\u2010helix\u2013coiled\u2010coil\u2010helix domain containing 2 (<jats:italic>CHCHD2<\/jats:italic>) gene have been identified in Japanese families with autosomal dominant Parkinson's disease (PD) and two single nucleotide variants (rs10043 and Pro2Leu) increased risk of sporadic PD. The role of <jats:italic>CHCHD2<\/jats:italic> in PD susceptibility in other Asian populations still remains to be clarified. In a large Chinese cohort from mainland China (31 familial PD patients, 1,027 sporadic PD patients, and 1,095 health controls), we examined the association of rs10043 and Pro2Leu variants in <jats:italic>CHCHD2<\/jats:italic> with PD. All subjects were homozygous for rs10043. Moreover, we detected six patients (0.57%, one of the six patients has family history) and three controls (0.27%) with a heterozygous Pro2Leu variant. Though the frequency of Pro2Leu variant was two times higher in PD compared to controls, the difference did not reach significance in genotypic distribution (<jats:italic>P<\/jats:italic>\u2009=\u20090.47) or allelic distribution (<jats:italic>P<\/jats:italic>\u2009=\u20090.47). However, our meta\u2010analysis in Asian populations revealed that the frequency of Pro2Leu variant was significantly higher in PD patients than in controls (<jats:italic>P\u2009<\/jats:italic>=\u20090.0002). Our study suggests that Pro2Leu in <jats:italic>CHCHD2<\/jats:italic> may be a risk factor for PD among Asians. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32498","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T12:48:37Z","timestamp":1473857317000},"page":"1148-1152","source":"Crossref","is-referenced-by-count":12,"title":["Genetic analysis of <i>CHCHD2<\/i> gene in Chinese Parkinson's disease"],"prefix":"10.1002","volume":"171","author":[{"given":"Nan\u2010Nan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology West China Hospital Sichuan University Chengdu Sichuan P.R. 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