Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis
Introduction Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases...
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| Format: | Article |
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Termedia Publishing House
2021-03-01
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| Series: | Archives of Medical Science |
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| Online Access: | https://www.archivesofmedicalscience.com/Association-of-vitamin-D-receptor-gene-polymorphisms-nwith-rheumatoid-arthritis,116606,0,2.html |
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| author | Noelia Marquez Pete Cristina Perez Ramirez Maria del Mar Maldonado Montoro Fernando Martinez Martinez Fernando Fernández-Llimos Antonio Sánchez Pozo María del Carmen Ramirez Tortosa Alberto Jiménez Morales |
| author_facet | Noelia Marquez Pete Cristina Perez Ramirez Maria del Mar Maldonado Montoro Fernando Martinez Martinez Fernando Fernández-Llimos Antonio Sánchez Pozo María del Carmen Ramirez Tortosa Alberto Jiménez Morales |
| author_sort | Noelia Marquez Pete |
| collection | DOAJ |
| description | Introduction
Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration
of the joints, leading to severe pain and functional disability. Vitamin D and
its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association
between VDR gene polymorphisms and risk of developing RA.
Material and methods
A retrospective study was performed, including
214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI
(rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene
polymorphisms were analyzed by TaqMan
Results
The recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58;
95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that
the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA
(p < 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI
were associated with higher risk of RA.
Conclusions
VDR FokI gene polymorphism showed a trend for risk of RA,
taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR
BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype
analysis indicated that the haplotypes ACGAG and GTGCA were associated
with higher risk of RA. |
| format | Article |
| id | doaj-art-ad4deadc4baf46548dc544a95081af15 |
| institution | Kabale University |
| issn | 1734-1922 1896-9151 |
| language | English |
| publishDate | 2021-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Archives of Medical Science |
| spelling | doaj-art-ad4deadc4baf46548dc544a95081af152025-01-27T10:44:31ZengTermedia Publishing HouseArchives of Medical Science1734-19221896-91512021-03-012051529153710.5114/aoms/116606116606Association of vitamin D receptor gene polymorphisms with rheumatoid arthritisNoelia Marquez Pete0Cristina Perez Ramirez1Maria del Mar Maldonado Montoro2Fernando Martinez Martinez3Fernando Fernández-Llimos4Antonio Sánchez Pozo5María del Carmen Ramirez Tortosa6Alberto Jiménez Morales7Pharmacy Service, Pharmacogenetics Unit, University Hospital Virgen de las Nieves, UGC Provincial de Farmacia de Granada, Granada, SpainPharmacy Service, Pharmacogenetics Unit, University Hospital Virgen de las Nieves, UGC Provincial de Farmacia de Granada, Granada, SpainClinical Analysis Service, Hospital Campus de la Salud, Granada, SpainDepartment of Physical Chemistry, Faculty of Pharmacy, University of Granada, Granada, SpainDepartment of Social Pharmacy, Faculty of Pharmacy, University of Lisbon, Lisbon, PortugalDepartment of Biochemistry, Faculty of Pharmacy, University of Granada, Granada, SpainDepartment of Biochemistry, Faculty of Pharmacy, University of Granada, Granada, SpainPharmacy Service, Pharmacogenetics Unit, University Hospital Virgen de las Nieves, UGC Provincial de Farmacia de Granada, Granada, SpainIntroduction Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association between VDR gene polymorphisms and risk of developing RA. Material and methods A retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqMan Results The recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA (p < 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI were associated with higher risk of RA. Conclusions VDR FokI gene polymorphism showed a trend for risk of RA, taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.https://www.archivesofmedicalscience.com/Association-of-vitamin-D-receptor-gene-polymorphisms-nwith-rheumatoid-arthritis,116606,0,2.htmlrheumatoid arthritisriskvitamin d receptorpolymorphisms |
| spellingShingle | Noelia Marquez Pete Cristina Perez Ramirez Maria del Mar Maldonado Montoro Fernando Martinez Martinez Fernando Fernández-Llimos Antonio Sánchez Pozo María del Carmen Ramirez Tortosa Alberto Jiménez Morales Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis Archives of Medical Science rheumatoid arthritis risk vitamin d receptor polymorphisms |
| title | Association of vitamin D receptor gene polymorphisms
with rheumatoid arthritis |
| title_full | Association of vitamin D receptor gene polymorphisms
with rheumatoid arthritis |
| title_fullStr | Association of vitamin D receptor gene polymorphisms
with rheumatoid arthritis |
| title_full_unstemmed | Association of vitamin D receptor gene polymorphisms
with rheumatoid arthritis |
| title_short | Association of vitamin D receptor gene polymorphisms
with rheumatoid arthritis |
| title_sort | association of vitamin d receptor gene polymorphisms with rheumatoid arthritis |
| topic | rheumatoid arthritis risk vitamin d receptor polymorphisms |
| url | https://www.archivesofmedicalscience.com/Association-of-vitamin-D-receptor-gene-polymorphisms-nwith-rheumatoid-arthritis,116606,0,2.html |
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