{"title":"HLA rs9267649和CYP24A1 rs2248359变异与多发性硬化症相关:伊朗人群研究","authors":"Sevil Babashpour, Mitra Ataei, Ferdous Rastgtar Jazii, Shekoofeh Alaie, Mohammad Hossein Sanati","doi":"10.30498/ijb.2022.276921.3012","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Studies have shown that MS results from synergism between genetic and environmental factors. As a genetic factor, the <i>rs9267649</i> variant through the regulatory effect on the <i>HLA-DRB1</i> expression is involved in the MS development. In addition, vitamin D deficiency through involvement of <i>rs2248359</i> variant of <i>CYP24A1</i> has shown to play important role in the risk of MS.</p><p><strong>Objectives: </strong>The aim of this study was to investigate both the <i>HLA rs9267649</i> and <i>CYP24A1 rs2248359</i> variants with risk of multiple sclerosis (MS) in Iranian population.</p><p><strong>Materials and methods: </strong>The <i>rs9267649</i> and <i>rs2248359</i> variants were genotyped in 82 Iranian Relapsing-Remitting Multiple Sclerosis (RRMS) patients and 100 matched healthy controls, using the PCR-RFLP method. The genotype and allele frequencies were calculated and statistically analyzed.</p><p><strong>Results: </strong>A significant difference was found in the allele distribution for the both <i>rs9267649</i> and <i>rs2248359</i> variants, such that the A allele of <i>rs9267649</i> and the C allele of <i>rs2248359</i> were found to be more frequent in MS patients than in the healthy controls (p-value: 0.009, OR: 2.264, 95% CI: 1.211-4.231 and p-value: 0.028 OR: 1.594, 95% CI: 1.052-2.415), respectively.</p><p><strong>Conclusions: </strong>The present research results provide further evidence on the association of the two variants <i>rs9267649</i> of the <i>HLA</i> and <i>rs2248359</i> of the <i>CYP24A1</i> gene with MS etiology and an increased risk of MS in Iranian RRMS patients. However, further large-scale investigations in various ethnicities and in the functional genomics level are demanded to confirm our findings.</p>","PeriodicalId":14492,"journal":{"name":"Iranian Journal of Biotechnology","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/a2/IJB-20-e3012.PMC9618012.pdf","citationCount":"0","resultStr":"{\"title\":\"The <i>HLA rs9267649</i> and <i>CYP24A1 rs2248359</i> Variants are Associated with Multiple Sclerosis: A Study on Iranian Population.\",\"authors\":\"Sevil Babashpour, Mitra Ataei, Ferdous Rastgtar Jazii, Shekoofeh Alaie, Mohammad Hossein Sanati\",\"doi\":\"10.30498/ijb.2022.276921.3012\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Studies have shown that MS results from synergism between genetic and environmental factors. As a genetic factor, the <i>rs9267649</i> variant through the regulatory effect on the <i>HLA-DRB1</i> expression is involved in the MS development. In addition, vitamin D deficiency through involvement of <i>rs2248359</i> variant of <i>CYP24A1</i> has shown to play important role in the risk of MS.</p><p><strong>Objectives: </strong>The aim of this study was to investigate both the <i>HLA rs9267649</i> and <i>CYP24A1 rs2248359</i> variants with risk of multiple sclerosis (MS) in Iranian population.</p><p><strong>Materials and methods: </strong>The <i>rs9267649</i> and <i>rs2248359</i> variants were genotyped in 82 Iranian Relapsing-Remitting Multiple Sclerosis (RRMS) patients and 100 matched healthy controls, using the PCR-RFLP method. The genotype and allele frequencies were calculated and statistically analyzed.</p><p><strong>Results: </strong>A significant difference was found in the allele distribution for the both <i>rs9267649</i> and <i>rs2248359</i> variants, such that the A allele of <i>rs9267649</i> and the C allele of <i>rs2248359</i> were found to be more frequent in MS patients than in the healthy controls (p-value: 0.009, OR: 2.264, 95% CI: 1.211-4.231 and p-value: 0.028 OR: 1.594, 95% CI: 1.052-2.415), respectively.</p><p><strong>Conclusions: </strong>The present research results provide further evidence on the association of the two variants <i>rs9267649</i> of the <i>HLA</i> and <i>rs2248359</i> of the <i>CYP24A1</i> gene with MS etiology and an increased risk of MS in Iranian RRMS patients. However, further large-scale investigations in various ethnicities and in the functional genomics level are demanded to confirm our findings.</p>\",\"PeriodicalId\":14492,\"journal\":{\"name\":\"Iranian Journal of Biotechnology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2022-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/a2/IJB-20-e3012.PMC9618012.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Journal of Biotechnology\",\"FirstCategoryId\":\"5\",\"ListUrlMain\":\"https://doi.org/10.30498/ijb.2022.276921.3012\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Journal of Biotechnology","FirstCategoryId":"5","ListUrlMain":"https://doi.org/10.30498/ijb.2022.276921.3012","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
The HLA rs9267649 and CYP24A1 rs2248359 Variants are Associated with Multiple Sclerosis: A Study on Iranian Population.
Background: Studies have shown that MS results from synergism between genetic and environmental factors. As a genetic factor, the rs9267649 variant through the regulatory effect on the HLA-DRB1 expression is involved in the MS development. In addition, vitamin D deficiency through involvement of rs2248359 variant of CYP24A1 has shown to play important role in the risk of MS.
Objectives: The aim of this study was to investigate both the HLA rs9267649 and CYP24A1 rs2248359 variants with risk of multiple sclerosis (MS) in Iranian population.
Materials and methods: The rs9267649 and rs2248359 variants were genotyped in 82 Iranian Relapsing-Remitting Multiple Sclerosis (RRMS) patients and 100 matched healthy controls, using the PCR-RFLP method. The genotype and allele frequencies were calculated and statistically analyzed.
Results: A significant difference was found in the allele distribution for the both rs9267649 and rs2248359 variants, such that the A allele of rs9267649 and the C allele of rs2248359 were found to be more frequent in MS patients than in the healthy controls (p-value: 0.009, OR: 2.264, 95% CI: 1.211-4.231 and p-value: 0.028 OR: 1.594, 95% CI: 1.052-2.415), respectively.
Conclusions: The present research results provide further evidence on the association of the two variants rs9267649 of the HLA and rs2248359 of the CYP24A1 gene with MS etiology and an increased risk of MS in Iranian RRMS patients. However, further large-scale investigations in various ethnicities and in the functional genomics level are demanded to confirm our findings.
期刊介绍:
Iranian Journal of Biotechnology (IJB) is published quarterly by the National Institute of Genetic Engineering and Biotechnology. IJB publishes original scientific research papers in the broad area of Biotechnology such as, Agriculture, Animal and Marine Sciences, Basic Sciences, Bioinformatics, Biosafety and Bioethics, Environment, Industry and Mining and Medical Sciences.