{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:00:22Z","timestamp":1793242822461,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T00:00:00Z","timestamp":1640217600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2021,12,23]]},"abstract":"<jats:p>Vitamin D is an important hormone involved in various physiologic processes, and its activity is linked to binding with vitamin D receptor (VDR). Genetic polymorphisms in the VDR gene could modulate the expression or function of the receptor and, consequently, alter the effects of vitamin D. Variants in VDR gene have been associated with susceptibility to many illnesses sensitive to vitamin D administration and to autoimmune disorders, but no data are available regarding autoimmune connective tissue diseases in Italian population. We analyzed three VDR polymorphisms in 695 Italian patients with autoimmune connective tissue diseases (308 with systemic lupus erythematosus (SLE), 195 with primary Sjogren\u2019s syndrome (pSS), and 192 with rheumatoid arthritis (RA)) and in 246 healthy controls with the aim to evaluate a possible association of VDR SNPs with susceptibility to these diseases in the Italian population. Genotyping of rs2228570, rs7975232, and rs731236 in VDR gene was performed by an allelic discrimination assay. A case\/control association study and a genotype\/phenotype correlation analysis have been performed. We observed a higher risk to develop SLE for rs2228570 TT genotype (<jats:inline-formula>\n                     <a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n                        <a:mi>P<\/a:mi>\n                        <a:mo>=<\/a:mo>\n                        <a:mn>0.029<\/a:mn>\n                     <\/a:math>\n                  <\/jats:inline-formula>, <jats:inline-formula>\n                     <c:math xmlns:c=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\">\n                        <c:mtext>OR<\/c:mtext>\n                        <c:mo>=<\/c:mo>\n                        <c:mn>1.79<\/c:mn>\n                     <\/c:math>\n                  <\/jats:inline-formula>). No association was observed between susceptibility to pSS or RA and this SNP, although this variant is significantly less present in RA patients producing autoantibodies. For rs7975232 SNP, we observed a significant association of the variant homozygous genotype with SLE (<jats:inline-formula>\n                     <e:math xmlns:e=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\">\n                        <e:mi>P<\/e:mi>\n                        <e:mo>=<\/e:mo>\n                        <e:mn>0.009<\/e:mn>\n                     <\/e:math>\n                  <\/jats:inline-formula>, <jats:inline-formula>\n                     <g:math xmlns:g=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\">\n                        <g:mtext>OR<\/g:mtext>\n                        <g:mo>=<\/g:mo>\n                        <g:mn>1.82<\/g:mn>\n                     <\/g:math>\n                  <\/jats:inline-formula>), pSS (<jats:inline-formula>\n                     <i:math xmlns:i=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\">\n                        <i:mi>P<\/i:mi>\n                        <i:mo>=<\/i:mo>\n                        <i:mn>0.046<\/i:mn>\n                     <\/i:math>\n                  <\/jats:inline-formula>, <jats:inline-formula>\n                     <k:math xmlns:k=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\">\n                        <k:mtext>OR<\/k:mtext>\n                        <k:mo>=<\/k:mo>\n                        <k:mn>1.66<\/k:mn>\n                     <\/k:math>\n                  <\/jats:inline-formula>), and RA (<jats:inline-formula>\n                     <m:math xmlns:m=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M7\">\n                        <m:mi>P<\/m:mi>\n                        <m:mo>=<\/m:mo>\n                        <m:mn>0.028<\/m:mn>\n                     <\/m:math>\n                  <\/jats:inline-formula>, <jats:inline-formula>\n                     <o:math xmlns:o=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M8\">\n                        <o:mtext>OR<\/o:mtext>\n                        <o:mo>=<\/o:mo>\n                        <o:mn>1.75<\/o:mn>\n                     <\/o:math>\n                  <\/jats:inline-formula>) susceptibility. Moreover, we reported associations of this genotype with clinical phenotypes of SLE and pSS. Lastly, the GG genotype of rs731236 was associated with a lower RA susceptibility (<jats:inline-formula>\n                     <q:math xmlns:q=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M9\">\n                        <q:mi>P<\/q:mi>\n                        <q:mo>=<\/q:mo>\n                        <q:mn>0.045<\/q:mn>\n                     <\/q:math>\n                  <\/jats:inline-formula>, <jats:inline-formula>\n                     <s:math xmlns:s=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M10\">\n                        <s:mtext>OR<\/s:mtext>\n                        <s:mo>=<\/s:mo>\n                        <s:mn>0.55<\/s:mn>\n                     <\/s:math>\n                  <\/jats:inline-formula>). Our results show that the explored VDR polymorphisms are significantly associated with autoimmune connective tissue disorders and support the hypothesis that the genetic variability of VDR gene may be involved in susceptibility to these diseases in Italian population.<\/jats:p>","DOI":"10.1155\/2021\/5812136","type":"journal-article","created":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T23:05:09Z","timestamp":1640300709000},"page":"1-6","source":"Crossref","is-referenced-by-count":19,"title":["VDR Polymorphisms in Autoimmune Connective Tissue Diseases: Focus on Italian Population"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5350-7361","authenticated-orcid":true,"given":"Andrea","family":"Latini","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9200-2510","authenticated-orcid":true,"given":"Giada","family":"De Benedittis","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4771-6981","authenticated-orcid":true,"given":"Carlo","family":"Perricone","sequence":"additional","affiliation":[{"name":"Rheumatology, Department of Medicine, University of Perugia, Piazzale Giorgio Menghini, 1, 06129 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7802-1192","authenticated-orcid":true,"given":"Serena","family":"Colafrancesco","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Clinical Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza University, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7905-8413","authenticated-orcid":true,"given":"Paola","family":"Conigliaro","sequence":"additional","affiliation":[{"name":"Rheumatology, Allergology and Clinical Immunology, Department of \u201cMedicina dei Sistemi\u201d, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5026-8783","authenticated-orcid":true,"given":"Fulvia","family":"Ceccarelli","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Clinical Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza University, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1343-1729","authenticated-orcid":true,"given":"Maria Sole","family":"Chimenti","sequence":"additional","affiliation":[{"name":"Rheumatology, Allergology and Clinical Immunology, Department of \u201cMedicina dei Sistemi\u201d, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9639-0909","authenticated-orcid":true,"given":"Lucia","family":"Novelli","sequence":"additional","affiliation":[{"name":"UniCamillus, Saint Camillus International University of Health Sciences, 00131 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6695-1445","authenticated-orcid":true,"given":"Roberta","family":"Priori","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Clinical Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza University, 00133 Rome, Italy"},{"name":"UniCamillus, Saint Camillus International University of Health Sciences, 00131 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1897-049X","authenticated-orcid":true,"given":"Fabrizio","family":"Conti","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Clinical Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza University, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3995-7032","authenticated-orcid":true,"given":"Cinzia","family":"Ciccacci","sequence":"additional","affiliation":[{"name":"UniCamillus, Saint Camillus International University of Health Sciences, 00131 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0859-4328","authenticated-orcid":true,"given":"Paola","family":"Borgiani","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1159\/000486536"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00014.2015"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2004.05.014"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.02.016"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.3109\/10799893.2014.922577"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-020-05143-y"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/s10528-020-10010-1"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2010.02.010"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2016.00697"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2004.02.007"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.3390\/nu13041208"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2017.1323205"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2011.06.012"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21249626"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/6728694"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12831"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1177\/0961203318776108"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/7682827"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1997.12.6.915"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1111\/1756-185X.13245"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.4103\/0971-5916.198664"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-013-2898-6"},{"issue":"2","key":"23","first-page":"174","article-title":"Association of vitamin D receptor gene polymorphisms with systemic lupus erythematosus: a meta-analysis","volume":"32","author":"J. Xiong","year":"2014","journal-title":"Clinical and Experimental Rheumatology"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-018-4036-z"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejr.2016.11.003"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1007\/s00393-015-1581-6"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2014.12.013"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-010-0477-4"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-74861-9"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1016\/j.humimm.2014.02.009"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.4103\/abr.abr_19_19"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-014-2639-6"}],"container-title":["Journal of Immunology Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2021\/5812136.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2021\/5812136.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2021\/5812136.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T23:05:14Z","timestamp":1640300714000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/jir\/2021\/5812136\/"}},"subtitle":[],"editor":[{"given":"Baohui","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2021,12,23]]},"references-count":32,"alternative-id":["5812136","5812136"],"URL":"https:\/\/doi.org\/10.1155\/2021\/5812136","relation":{},"ISSN":["2314-7156","2314-8861"],"issn-type":[{"value":"2314-7156","type":"electronic"},{"value":"2314-8861","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12,23]]}}}