The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women
Osteoarthritis (OA) is a common multifactorial joint disease. Undifferentiated connective tissue dysplasia (uCTD) is a genetically determined lesion of the connective tissue structures, including joints, and it can be one of the factors predisposing to development of OA. Solving the problem of comor...
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| Format: | Article |
| Language: | English |
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Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2018-11-01
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| Series: | Вавиловский журнал генетики и селекции |
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| Online Access: | https://vavilov.elpub.ru/jour/article/view/1721 |
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| author | D. A. Shapovalova A. V. Tyurin S. S. Litvinov E. K. Khusnutdinova R. I. Khusainova |
| author_facet | D. A. Shapovalova A. V. Tyurin S. S. Litvinov E. K. Khusnutdinova R. I. Khusainova |
| author_sort | D. A. Shapovalova |
| collection | DOAJ |
| description | Osteoarthritis (OA) is a common multifactorial joint disease. Undifferentiated connective tissue dysplasia (uCTD) is a genetically determined lesion of the connective tissue structures, including joints, and it can be one of the factors predisposing to development of OA. Solving the problem of comorbidity of OA and uCTD signs will contribute to the early diagnosis and prophylactics of OA. Aggrecan is one of the major structural components of cartilage and it provides the ability to resist compressive loads throughout life. We examined 316 women (mean age 50.5 ± 4.77) for signs of uCTD and OA. A study of the aggrecan gene (ACAN) VNTR polymorphism, which is represented by a variable number of 57 nucleotide repeats, was performed. We searched for associations between the VNTR locus and OA in general and with an account of the localization of the pathological process, as well as with the presence of uCTD signs. Twelve allelic variants and 24 genotypes of the VNTR polymorphism of the aggrecan gene (ACAN) were identified, the most frequent variants were alleles with 27, 28 and 26 repeats. A significance of allele *27 (х2 = 6.297, p = 0.012, odds ratio (OR) = 1.50; 95 % confidence interval (CI) 1.09-2.05) in the development of OA in general, knee OA (х2 = 4.613, p = 0.031, OR = 1.52; 95 % CI 1.04-2.23), and multiple OA (х2 = 4.181, p = 0.04, OR = 1.68; 95 % CI 1.02-2.78) was revealed. Homozygous genotype *27*27 was associated with OA (х2 = 3.921, р = 0.047, OR = 1.72; 95 % CI 1-2.96), and OA with uCTD signs in women (х2 = 5.415, p = 0.019, OR = 2.34; 95 % CI 1.13-4.83). |
| format | Article |
| id | doaj-art-009784f922264896a600f71b0ad13e92 |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2018-11-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
| record_format | Article |
| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-009784f922264896a600f71b0ad13e922025-02-01T09:58:06ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592018-11-0122786587210.18699/VJ18.427833The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in womenD. A. Shapovalova0A. V. Tyurin1S. S. Litvinov2E. K. Khusnutdinova3R. I. Khusainova4Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre, RASUBashkir State Medical University of the Ministry of Health of the Russian FederationInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre, RASUInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre, RASUInstitute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre, RASUOsteoarthritis (OA) is a common multifactorial joint disease. Undifferentiated connective tissue dysplasia (uCTD) is a genetically determined lesion of the connective tissue structures, including joints, and it can be one of the factors predisposing to development of OA. Solving the problem of comorbidity of OA and uCTD signs will contribute to the early diagnosis and prophylactics of OA. Aggrecan is one of the major structural components of cartilage and it provides the ability to resist compressive loads throughout life. We examined 316 women (mean age 50.5 ± 4.77) for signs of uCTD and OA. A study of the aggrecan gene (ACAN) VNTR polymorphism, which is represented by a variable number of 57 nucleotide repeats, was performed. We searched for associations between the VNTR locus and OA in general and with an account of the localization of the pathological process, as well as with the presence of uCTD signs. Twelve allelic variants and 24 genotypes of the VNTR polymorphism of the aggrecan gene (ACAN) were identified, the most frequent variants were alleles with 27, 28 and 26 repeats. A significance of allele *27 (х2 = 6.297, p = 0.012, odds ratio (OR) = 1.50; 95 % confidence interval (CI) 1.09-2.05) in the development of OA in general, knee OA (х2 = 4.613, p = 0.031, OR = 1.52; 95 % CI 1.04-2.23), and multiple OA (х2 = 4.181, p = 0.04, OR = 1.68; 95 % CI 1.02-2.78) was revealed. Homozygous genotype *27*27 was associated with OA (х2 = 3.921, р = 0.047, OR = 1.72; 95 % CI 1-2.96), and OA with uCTD signs in women (х2 = 5.415, p = 0.019, OR = 2.34; 95 % CI 1.13-4.83).https://vavilov.elpub.ru/jour/article/view/1721osteoarthritisnon-differentiated connective tissue dysplasiaaggrecanvntr polymorphismgenetic predisposition |
| spellingShingle | D. A. Shapovalova A. V. Tyurin S. S. Litvinov E. K. Khusnutdinova R. I. Khusainova The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women Вавиловский журнал генетики и селекции osteoarthritis non-differentiated connective tissue dysplasia aggrecan vntr polymorphism genetic predisposition |
| title | The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women |
| title_full | The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women |
| title_fullStr | The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women |
| title_full_unstemmed | The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women |
| title_short | The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women |
| title_sort | role of vntr aggrecan gene polymorphism in the development of osteoarthritis in women |
| topic | osteoarthritis non-differentiated connective tissue dysplasia aggrecan vntr polymorphism genetic predisposition |
| url | https://vavilov.elpub.ru/jour/article/view/1721 |
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