Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population
Objective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5) to the risk of multiple sclerosis (MS) development and find out the possible association with disease disability progression rat...
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| Format: | Article |
| Language: | English |
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Sciendo
2017-08-01
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| Series: | Acta Medica Martiniana |
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| Online Access: | https://doi.org/10.1515/acm-2017-0007 |
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| author | Hanysova Sandra Cierny D. Kurca E. Lehotsky J. |
| author_facet | Hanysova Sandra Cierny D. Kurca E. Lehotsky J. |
| author_sort | Hanysova Sandra |
| collection | DOAJ |
| description | Objective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5) to the risk of multiple sclerosis (MS) development and find out the possible association with disease disability progression rate. Material and methods: Our study included 202 MS patients and 174 healthy control volunteers. MS patients were divided according to disability progression rate to three groups - slowly progressing, mid-rate progressing and rapidly progressing. All DNA samples were isolated from venous blood. Genotyping was performed by PCR-RFLP and multiplex PCR. Results: Our analysis showed that GSTT1 null genotype (OR 0.56; 95%CI 0.33 -0.95; p=0.04) and GSTM1, GSTT1 double null genotype (OR 0.32; 95%CI 0.14 - 0.74; p=0.006) are potentially protective in relation to MS. We observed similar result in GSTT1 null genotype in association with mid-rate progression (OR 0.48; 95%CI 0.24 - 0.97; p=0.05). Frequency of GSTM1 and GSTT1 double null genotype is significantly lower in subgroup of MS patients with progression rate defined as slow (OR 0.22; 95%CI 0.05 - 0.98; p=0.05) and middle (OR 0.33; 95%CI 0.11 - 0.99; p=0.045). We did not show any significant association of genetic changes rs1695 in GSTP1 and rs10735781 in EVI5 with MS or rate of disease progression. Conclusions: Genetic basis of multiple sclerosis is still not fully elucidated. Further research may clarify our results and confirm the value of studied factors for clinical practice. |
| first_indexed | 2024-12-19T12:06:30Z |
| format | Article |
| id | doaj.art-88e998d2d79d4fe9992aea2efff9e3fa |
| institution | Directory Open Access Journal |
| issn | 1335-8421 |
| language | English |
| last_indexed | 2024-12-19T12:06:30Z |
| publishDate | 2017-08-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Acta Medica Martiniana |
| spelling | doaj.art-88e998d2d79d4fe9992aea2efff9e3fa2022-12-21T20:22:20ZengSciendoActa Medica Martiniana1335-84212017-08-01172151910.1515/acm-2017-0007acm-2017-0007Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak PopulationHanysova Sandra0Cierny D.1Kurca E.2Lehotsky J.3Department of Medical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Bratislava, SlovakiaDepartment of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Bratislava, SlovakiaDepartment of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Bratislava, SlovakiaDepartment of Medical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, SlovakiaObjective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5) to the risk of multiple sclerosis (MS) development and find out the possible association with disease disability progression rate. Material and methods: Our study included 202 MS patients and 174 healthy control volunteers. MS patients were divided according to disability progression rate to three groups - slowly progressing, mid-rate progressing and rapidly progressing. All DNA samples were isolated from venous blood. Genotyping was performed by PCR-RFLP and multiplex PCR. Results: Our analysis showed that GSTT1 null genotype (OR 0.56; 95%CI 0.33 -0.95; p=0.04) and GSTM1, GSTT1 double null genotype (OR 0.32; 95%CI 0.14 - 0.74; p=0.006) are potentially protective in relation to MS. We observed similar result in GSTT1 null genotype in association with mid-rate progression (OR 0.48; 95%CI 0.24 - 0.97; p=0.05). Frequency of GSTM1 and GSTT1 double null genotype is significantly lower in subgroup of MS patients with progression rate defined as slow (OR 0.22; 95%CI 0.05 - 0.98; p=0.05) and middle (OR 0.33; 95%CI 0.11 - 0.99; p=0.045). We did not show any significant association of genetic changes rs1695 in GSTP1 and rs10735781 in EVI5 with MS or rate of disease progression. Conclusions: Genetic basis of multiple sclerosis is still not fully elucidated. Further research may clarify our results and confirm the value of studied factors for clinical practice.https://doi.org/10.1515/acm-2017-0007multiple sclerosismsss scorenull genotypegene polymorphismpcr analysis |
| spellingShingle | Hanysova Sandra Cierny D. Kurca E. Lehotsky J. Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population Acta Medica Martiniana multiple sclerosis msss score null genotype gene polymorphism pcr analysis |
| title | Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population |
| title_full | Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population |
| title_fullStr | Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population |
| title_full_unstemmed | Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population |
| title_short | Genetic Factors Associated with Risk and Disability Progression of Multiple Sclerosis in Slovak Population |
| title_sort | genetic factors associated with risk and disability progression of multiple sclerosis in slovak population |
| topic | multiple sclerosis msss score null genotype gene polymorphism pcr analysis |
| url | https://doi.org/10.1515/acm-2017-0007 |
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