{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T18:09:37Z","timestamp":1793210977865,"version":"4.5.0"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,10,25]],"date-time":"2016-10-25T00:00:00Z","timestamp":1477353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002402","name":"Sun Yat-sen University","doi-asserted-by":"publisher","award":["2007023"],"award-info":[{"award-number":["2007023"]}],"id":[{"id":"10.13039\/501100002402","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31070806"],"award-info":[{"award-number":["31070806"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate whether vitamin D receptor (<jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content>) gene polymorphisms confer susceptibility to aankylosing spondylitis (<jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content>) and study its polymorphisms in Han Chinese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We screened single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) in the <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content> region through genome\u2010wide genotyping chips in <jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content> cases and healthy controls, then used the exome sequencing result to analyze all the potential <jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in the <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010two <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s were found in the <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content> gene in the genome\u2010wide genotyping chips and the logistic regression result showed no significant difference between <jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content> cases and controls. A total of 46 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in the <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content> region were genotyped through exome sequencing, including four functional <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s (rs731236 [TaqI], rs2228570 [FokI], rs7975232 [ApaI], rs1544410 [BsmI]) and two newly discovered <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s (12:48259222 and 12:48276730). To note, rs731236 and rs2228570 locate in the exons of <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content>, which cause synonymous and missense mutation. The association test showed there was no significant difference between <jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content> cases and controls in the allele frequency distribution, but haplotype analysis of rs11168266\u2010rs11168267 show nominal significance (<jats:italic>P<\/jats:italic> = 0.01268).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our preliminary study indicates the haplotypes (<jats:styled-content style=\"fixed-case\">TG<\/jats:styled-content>) of rs11168266\u2010rs11168267 in the <jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content> gene confers susceptibility to <jats:styled-content style=\"fixed-case\">AS<\/jats:styled-content>, which is worth further research.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.12949","type":"journal-article","created":{"date-parts":[[2016,10,25]],"date-time":"2016-10-25T05:26:48Z","timestamp":1477373208000},"page":"1510-1516","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Association between vitamin D receptor gene polymorphism and ankylosing spondylitis in Han Chinese"],"prefix":"10.1111","volume":"20","author":[{"given":"Pingping","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Rheumatology The Third Affiliated Hospital of Sun Yat\u2010Sen University Guangzhou China"},{"name":"Department of Pediatrics The Third Affiliated Hospital of Sun Yat\u2010Sen University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiuxia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rheumatology The Third Affiliated Hospital of Sun Yat\u2010Sen University 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