{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:10:49Z","timestamp":1753891849524,"version":"3.41.2"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:p>Increasing evidence reveals sex as an important factor in the development of Parkinson\u2019s disease (PD), but associations between genes on the sex chromosomes and PD remain unknown. <jats:italic>TAF1<\/jats:italic> is a gene located on the X chromosome which is known to cause X-linked syndromic mental retardation-33 (MRXS33) and X-linked Dystonia-Parkinsonism (XDP). In this study, we conducted whole-exome sequencing (WES) among 1,917 patients with early-onset or familial PD and 1,652 controls in a Chinese population. We detected a hemizygous frameshift variant c.29_53dupGGA(CAG)<jats:sub>2<\/jats:sub>CTACCATCA(CTG)<jats:sub>2<\/jats:sub>C (p.A19Dfs*50) in two unrelated male patients. Further segregation analysis showed an unaffected family member carried this variant, which suggested the penetrance of the variant may be age-related and incomplete. To verify the effects of <jats:italic>TAF1<\/jats:italic> on PD, genetic analyses were carried separately by gender. Analysis of rare variants by optimal sequence kernel association (SKAT-O) test showed a nominally significant difference in variant burden between the male PD patients and controls (2.01 vs. 1.38%, <jats:italic>p<\/jats:italic> = 0.027). In the female group, none of the variant types showed significant association with PD in this study. In conclusion, we found rare variants in <jats:italic>TAF1<\/jats:italic> may be implicated in PD, but further genetic and functional analyses were needed.<\/jats:p>","DOI":"10.3389\/fnins.2022.846095","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T06:46:15Z","timestamp":1649400375000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Association Study of TAF1 Variants in Parkinson\u2019s Disease"],"prefix":"10.3389","volume":"16","author":[{"given":"Qian","family":"Zeng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yige","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jieqiong","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinxiang","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinchen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jifeng","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.02.011","article-title":"Dissecting the causal mechanism of x-linked dystonia-parkinsonism by integrating genome and transcriptome assembly.","volume":"172","author":"Aneichyk","year":"2018","journal-title":"Cell"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-020-00408-1","article-title":"Glycosphingolipids and neuroinflammation in Parkinson\u2019s disease.","volume":"15","author":"Belarbi","year":"2020","journal-title":"Mol. 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