Vitamin D3 receptor ( VDR ) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis
Some epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP) in the vitamin D receptor (VDR...
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| Veröffentlicht in: | PloS one 2013-06, Vol.8 (6), p.e65487-e65487 |
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| creator | García-Martín, Elena Agúndez, José A G Martínez, Carmen Benito-León, Julián Millán-Pascual, Jorge Calleja, Patricia Díaz-Sánchez, María Pisa, Diana Turpín-Fenoll, Laura Alonso-Navarro, Hortensia Ayuso-Peralta, Lucía Torrecillas, Dolores Plaza-Nieto, José Francisco Jiménez-Jiménez, Félix Javier |
| description | Some epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP) in the vitamin D receptor (VDR) gene to the risk for MS are controversial. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS.
The aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501.
We analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388) in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain). Heterogeneity between studies in terms of degree of association was tested using the Q-statistic.
VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I. = 3.14-7.27; p |
| doi_str_mv | 10.1371/journal.pone.0065487 |
| format | Article |
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The aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501.
We analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388) in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain). Heterogeneity between studies in terms of degree of association was tested using the Q-statistic.
VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I. = 3.14-7.27; p<0.0001). The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both SNPs with the risk for MS. HLADRB1*1501 showed lack of interaction with VDR rs2228570 and rs731236 in increasing MS risk.
These results suggest that VDR rs2228570 and rs731236 polymorphisms are not related with the risk for MS, and did not confirm interaction between these VDR SNPs and HLADRB1 in the risk for MS.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0065487</identifier><identifier>PMID: 23840333</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Biochemistry ; Biology ; Case-Control Studies ; Confidence intervals ; Data processing ; Deoxyribonucleases, Type II Site-Specific - chemistry ; Dopamine D3 receptors ; Epidemiology ; Epistasis, Genetic ; Experimental allergic encephalomyelitis ; Female ; Gene Frequency ; Genes ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genomes ; Haplotypes ; Heterogeneity ; Histocompatibility antigen HLA ; HLA-DRB1 Chains - genetics ; Hospitals ; Humans ; Male ; Medicine ; Meta-analysis ; Metabolism ; Metabolites ; Middle Aged ; Molecular biology ; Multiple sclerosis ; Multiple Sclerosis - genetics ; Neurology ; Pathogenesis ; Patients ; Polymorphism ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Receptors, Calcitriol - genetics ; Risk ; Single-nucleotide polymorphism ; Statistical analysis ; Studies ; Vitamin D ; Vitamin D receptors ; Vitamin D3 ; Vitamin deficiency</subject><ispartof>PloS one, 2013-06, Vol.8 (6), p.e65487-e65487</ispartof><rights>2013 García-Martín et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 García-Martín et al 2013 García-Martín et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-2e3bc910ff914f5acba954e9f13d5b59eff439e443b48783735548601914b3e93</citedby><cites>FETCH-LOGICAL-c526t-2e3bc910ff914f5acba954e9f13d5b59eff439e443b48783735548601914b3e93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688728/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688728/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79569,79570</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23840333$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>García-Martín, Elena</creatorcontrib><creatorcontrib>Agúndez, José A G</creatorcontrib><creatorcontrib>Martínez, Carmen</creatorcontrib><creatorcontrib>Benito-León, Julián</creatorcontrib><creatorcontrib>Millán-Pascual, Jorge</creatorcontrib><creatorcontrib>Calleja, Patricia</creatorcontrib><creatorcontrib>Díaz-Sánchez, María</creatorcontrib><creatorcontrib>Pisa, Diana</creatorcontrib><creatorcontrib>Turpín-Fenoll, Laura</creatorcontrib><creatorcontrib>Alonso-Navarro, Hortensia</creatorcontrib><creatorcontrib>Ayuso-Peralta, Lucía</creatorcontrib><creatorcontrib>Torrecillas, Dolores</creatorcontrib><creatorcontrib>Plaza-Nieto, José Francisco</creatorcontrib><creatorcontrib>Jiménez-Jiménez, Félix Javier</creatorcontrib><title>Vitamin D3 receptor ( VDR ) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Some epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP) in the vitamin D receptor (VDR) gene to the risk for MS are controversial. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS.
The aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501.
We analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388) in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain). Heterogeneity between studies in terms of degree of association was tested using the Q-statistic.
VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I. = 3.14-7.27; p<0.0001). The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both SNPs with the risk for MS. HLADRB1*1501 showed lack of interaction with VDR rs2228570 and rs731236 in increasing MS risk.
These results suggest that VDR rs2228570 and rs731236 polymorphisms are not related with the risk for MS, and did not confirm interaction between these VDR SNPs and HLADRB1 in the risk for MS.</description><subject>Adult</subject><subject>Biochemistry</subject><subject>Biology</subject><subject>Case-Control Studies</subject><subject>Confidence intervals</subject><subject>Data processing</subject><subject>Deoxyribonucleases, Type II Site-Specific - chemistry</subject><subject>Dopamine D3 receptors</subject><subject>Epidemiology</subject><subject>Epistasis, Genetic</subject><subject>Experimental allergic encephalomyelitis</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Heterogeneity</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Meta-analysis</subject><subject>Metabolism</subject><subject>Metabolites</subject><subject>Middle Aged</subject><subject>Molecular biology</subject><subject>Multiple sclerosis</subject><subject>Multiple Sclerosis - genetics</subject><subject>Neurology</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Polymorphism</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Receptors, Calcitriol - genetics</subject><subject>Risk</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>Studies</subject><subject>Vitamin D</subject><subject>Vitamin D receptors</subject><subject>Vitamin D3</subject><subject>Vitamin deficiency</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNptks9uEzEQxlcIREvhDRBY4pIeEmzPev_0gIRaCpUqIaHSqzXrnU3cbtap7W2V1-IJcZq0ahEnW-PffDPzebLsveAzAaX4fOVGP2A_W7mBZpwXKq_KF9m-qEFOC8nh5ZP7XvYmhCvOFVRF8Trbk1DlHAD2sz-XNuLSDuwEmCdDq-g8m7DLk1_skM1pIOaDlLJSJWeTU3ctDhkObQqWICQUbHKBNyl2i97iEANDT2xwkWEIzliM1LI7GxcsLpKSDdesS_rLsY921RMLpifvgg1HqXhI0cBcx5ANdMdCHNv1fTFkS4o4xTTtOrFvs1cd9oHe7c6D7Pfpt4vjH9Pzn9_Pjr-eT42SRZxKgsbUgnddLfJOoWmwVjnVnYBWNaqmrsuhpjyHJjlXQQkqWVhwkfAGqIaD7ONWd9W7oHd2B53M5yLh9YY42xKtwyu98naJfq0dWn0fcH6u0UebhtTJcEnCSGyB51JR1SAYaSpJJKXoVNL6sqs2NktqDQ3RY_9M9PnLYBd67m41FFVVyioJTHYC3t2MFKJe2mCo73EgN276rmvFcyg36Kd_0P9Pl28pk74oeOoemxF8w4mHLL1ZQb1bwZT24ekgj0kPOwd_AWhr15s</recordid><startdate>20130620</startdate><enddate>20130620</enddate><creator>García-Martín, Elena</creator><creator>Agúndez, José A G</creator><creator>Martínez, Carmen</creator><creator>Benito-León, Julián</creator><creator>Millán-Pascual, Jorge</creator><creator>Calleja, Patricia</creator><creator>Díaz-Sánchez, María</creator><creator>Pisa, Diana</creator><creator>Turpín-Fenoll, Laura</creator><creator>Alonso-Navarro, Hortensia</creator><creator>Ayuso-Peralta, Lucía</creator><creator>Torrecillas, Dolores</creator><creator>Plaza-Nieto, José Francisco</creator><creator>Jiménez-Jiménez, Félix Javier</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20130620</creationdate><title>Vitamin D3 receptor ( VDR ) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis</title><author>García-Martín, Elena ; Agúndez, José A G ; Martínez, Carmen ; Benito-León, Julián ; Millán-Pascual, Jorge ; Calleja, Patricia ; Díaz-Sánchez, María ; Pisa, Diana ; Turpín-Fenoll, Laura ; Alonso-Navarro, Hortensia ; Ayuso-Peralta, Lucía ; Torrecillas, Dolores ; Plaza-Nieto, José Francisco ; Jiménez-Jiménez, Félix Javier</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-2e3bc910ff914f5acba954e9f13d5b59eff439e443b48783735548601914b3e93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Biochemistry</topic><topic>Biology</topic><topic>Case-Control Studies</topic><topic>Confidence intervals</topic><topic>Data processing</topic><topic>Deoxyribonucleases, Type II Site-Specific - chemistry</topic><topic>Dopamine D3 receptors</topic><topic>Epidemiology</topic><topic>Epistasis, Genetic</topic><topic>Experimental allergic encephalomyelitis</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Heterogeneity</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA-DRB1 Chains - genetics</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Meta-analysis</topic><topic>Metabolism</topic><topic>Metabolites</topic><topic>Middle Aged</topic><topic>Molecular biology</topic><topic>Multiple sclerosis</topic><topic>Multiple Sclerosis - genetics</topic><topic>Neurology</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Polymorphism</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Receptors, Calcitriol - genetics</topic><topic>Risk</topic><topic>Single-nucleotide polymorphism</topic><topic>Statistical analysis</topic><topic>Studies</topic><topic>Vitamin D</topic><topic>Vitamin D receptors</topic><topic>Vitamin D3</topic><topic>Vitamin deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>García-Martín, Elena</creatorcontrib><creatorcontrib>Agúndez, José A G</creatorcontrib><creatorcontrib>Martínez, Carmen</creatorcontrib><creatorcontrib>Benito-León, Julián</creatorcontrib><creatorcontrib>Millán-Pascual, Jorge</creatorcontrib><creatorcontrib>Calleja, Patricia</creatorcontrib><creatorcontrib>Díaz-Sánchez, María</creatorcontrib><creatorcontrib>Pisa, Diana</creatorcontrib><creatorcontrib>Turpín-Fenoll, Laura</creatorcontrib><creatorcontrib>Alonso-Navarro, Hortensia</creatorcontrib><creatorcontrib>Ayuso-Peralta, Lucía</creatorcontrib><creatorcontrib>Torrecillas, Dolores</creatorcontrib><creatorcontrib>Plaza-Nieto, José Francisco</creatorcontrib><creatorcontrib>Jiménez-Jiménez, Félix Javier</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>García-Martín, Elena</au><au>Agúndez, José A G</au><au>Martínez, Carmen</au><au>Benito-León, Julián</au><au>Millán-Pascual, Jorge</au><au>Calleja, Patricia</au><au>Díaz-Sánchez, María</au><au>Pisa, Diana</au><au>Turpín-Fenoll, Laura</au><au>Alonso-Navarro, Hortensia</au><au>Ayuso-Peralta, Lucía</au><au>Torrecillas, Dolores</au><au>Plaza-Nieto, José Francisco</au><au>Jiménez-Jiménez, Félix Javier</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Vitamin D3 receptor ( VDR ) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2013-06-20</date><risdate>2013</risdate><volume>8</volume><issue>6</issue><spage>e65487</spage><epage>e65487</epage><pages>e65487-e65487</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Some epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP) in the vitamin D receptor (VDR) gene to the risk for MS are controversial. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS.
The aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501.
We analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388) in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain). Heterogeneity between studies in terms of degree of association was tested using the Q-statistic.
VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I. = 3.14-7.27; p<0.0001). The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both SNPs with the risk for MS. HLADRB1*1501 showed lack of interaction with VDR rs2228570 and rs731236 in increasing MS risk.
These results suggest that VDR rs2228570 and rs731236 polymorphisms are not related with the risk for MS, and did not confirm interaction between these VDR SNPs and HLADRB1 in the risk for MS.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>23840333</pmid><doi>10.1371/journal.pone.0065487</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2013-06, Vol.8 (6), p.e65487-e65487 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1370183799 |
| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adult Biochemistry Biology Case-Control Studies Confidence intervals Data processing Deoxyribonucleases, Type II Site-Specific - chemistry Dopamine D3 receptors Epidemiology Epistasis, Genetic Experimental allergic encephalomyelitis Female Gene Frequency Genes Genetic Association Studies Genetic Predisposition to Disease Genomes Haplotypes Heterogeneity Histocompatibility antigen HLA HLA-DRB1 Chains - genetics Hospitals Humans Male Medicine Meta-analysis Metabolism Metabolites Middle Aged Molecular biology Multiple sclerosis Multiple Sclerosis - genetics Neurology Pathogenesis Patients Polymorphism Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Receptors, Calcitriol - genetics Risk Single-nucleotide polymorphism Statistical analysis Studies Vitamin D Vitamin D receptors Vitamin D3 Vitamin deficiency |
| title | Vitamin D3 receptor ( VDR ) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis |
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