{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:41:19Z","timestamp":1777660879607,"version":"3.51.4"},"reference-count":37,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This study aims to identify causal variants associated with vitiligo in an expanded region of 10q22.1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      We conducted a fine-scale deep analysis of the expanded 10q22.1 region using in a large genome-wide association studies dataset consisting of 1117 cases and 1701 controls through imputation. We selected five nominal coding single nucleotide polymorphisms (SNPs) located in\n                      <jats:italic toggle=\"yes\">SLC29A3<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">CDH23<\/jats:italic>\n                      and genotyped them in an independent cohort of 2479 cases and 2451 controls in a Chinese Han population cohort using the Sequenom MassArray iPLEX1 system.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A missense SNP in\n                      <jats:italic toggle=\"yes\">SLC29A3<\/jats:italic>\n                      , rs2252996, showed strong evidence of association with vitiligo (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20091.34\u2009\u00d7\u200910\n                      <jats:sup>\u22128<\/jats:sup>\n                      , odds ratio [OR]\u2009=\u20090.82). Three synonymous SNPs (rs1084004 in\n                      <jats:italic toggle=\"yes\">SLC29A3<\/jats:italic>\n                      ; rs12218559 and rs10999978 in\n                      <jats:italic toggle=\"yes\">CDH23<\/jats:italic>\n                      ) provided suggestive evidence of association for vitiligo (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20091.69\u2009\u00d7\u200910\n                      <jats:sup>\u22126<\/jats:sup>\n                      , OR\u2009=\u20090.84;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20099.47\u2009\u00d7\u200910\n                      <jats:sup>\u22125<\/jats:sup>\n                      , OR\u2009=\u20091.18;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20096.90\u2009\u00d7\u200910\n                      <jats:sup>\u22124<\/jats:sup>\n                      , OR\u2009=\u20091.16, respectively). Stepwise conditional analyses identified two significant independent disease-associated signals from the four SNPs (both\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009&lt;\u20090.05; both D\u2019\u2009=\u20090.03; and\n                      <jats:italic toggle=\"yes\">\n                        r\n                        <jats:sup>2<\/jats:sup>\n                      <\/jats:italic>\n                      \u2009=\u20090.00).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      The study identifies four genetic coding variants in\n                      <jats:italic toggle=\"yes\">SLC29A3<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">CDH23<\/jats:italic>\n                      on 10q22.1 that may contribute to vitiligo susceptibility with one missense variant affecting disease subphenotypes. The presence of multiple genetic variants underscores their significant role in the genetic pathogenesis of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2023.0027","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T09:27:06Z","timestamp":1711618026000},"page":"123-130","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5048-0386","authenticated-orcid":false,"given":"Xianfa","family":"Tang","sequence":"first","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengyun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengli","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Institute of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China."},{"name":"Key Laboratory of Dermatology, Ministry of Education, Hefei, China."},{"name":"Inflammation and Immune-Mediated Diseases Laboratory of Anhui Province, Hefei, 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