Genetic susceptibility of intervertebral disc degeneration among young Finnish adults
Background Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderat...
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Online Access: | http://hdl.handle.net/10044/1/85667 https://doi.org/10.1186/1471-2350-12-153 |
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ftimperialcol:oai:spiral.imperial.ac.uk:10044/1/85667 2023-05-15T17:42:55+02:00 Genetic susceptibility of intervertebral disc degeneration among young Finnish adults Kelempisioti, A Eskola, PJ Okuloff, A Karjalainen, U Takatalo, J Daavittila, I Niinimaki, J Sequeiros, RB Tervonen, O Solovieva, S Kao, PYP Song, Y-Q Cheung, KMC Chan, D Ala-Kokko, L Jarvelin, M-R Karppinen, J Mannikko, M 2011-11-22 http://hdl.handle.net/10044/1/85667 https://doi.org/10.1186/1471-2350-12-153 English eng BioMed Central BMC Medical Genetics 1471-2350 http://hdl.handle.net/10044/1/85667 doi:10.1186/1471-2350-12-153 © 2011 Kelempisioti et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/2.0 CC-BY 8 1 Science & Technology Life Sciences & Biomedicine Genetics & Heredity INTERMEDIATE LAYER PROTEIN LOW-BACK-PAIN VITAMIN-D-RECEPTOR RISK-FACTORS LUMBAR ASSOCIATION DISEASE POLYMORPHISMS PROMOTER OSTEOARTHRITIS Adolescent Cohort Studies Extracellular Matrix Proteins Finland Genetic Association Studies Genetic Predisposition to Disease Genotype Haplotypes Humans Inheritance Patterns Interleukin-6 Intervertebral Disc Degeneration Logistic Models Magnetic Resonance Imaging Models Genetic Polymorphism Single Nucleotide Proteins Pyrophosphatases Young Adult 0604 Genetics 1103 Clinical Sciences Journal Article 2011 ftimperialcol https://doi.org/10.1186/1471-2350-12-153 2021-01-28T23:39:17Z Background Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defined and characterized cohort of young adults. Focusing on young age can be valuable in determining genetic predisposition to DD. Methods We investigated the associations of existing candidate genes for DD among 538 young adults with a mean age of 19 belonging to the 1986 Northern Finland Birth Cohort. Nineteen single nucleotide polymorphisms (SNP) in 16 genes were genotyped. We evaluated lumbar DD using the modified Pfirrmann classification and a 1.5-T magnetic resonance scanner for imaging. Results Of the 538 individuals studied, 46% had no degeneration, while 54% had DD and 51% of these had moderate DD. The risk of DD was significantly higher in subjects with an allele G of IL6 SNPs rs1800795 (OR 1.45, 95% CI 1.07-1.96) and rs1800797 (OR 1.37, 95% CI 1.02-1.85) in the additive inheritance model. The role of IL6 was further supported by the haplotype analysis, which resulted in an association between the GGG haplotype (SNPs rs1800797, rs1800796 and rs1800795) and DD with an OR of 1.51 (95% CI 1.11-2.04). In addition, we observed an association between DD and two other polymorphisms, SKT rs16924573 (OR 0.27 95% CI 0.07-0.96) and CILP rs2073711 in women (OR 2.04, 95% CI 1.07-3.89). Conclusion Our results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults. Article in Journal/Newspaper Northern Finland Imperial College London: Spiral BMC Medical Genetics 12 1 |
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Open Polar |
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Imperial College London: Spiral |
op_collection_id |
ftimperialcol |
language |
English |
topic |
Science & Technology Life Sciences & Biomedicine Genetics & Heredity INTERMEDIATE LAYER PROTEIN LOW-BACK-PAIN VITAMIN-D-RECEPTOR RISK-FACTORS LUMBAR ASSOCIATION DISEASE POLYMORPHISMS PROMOTER OSTEOARTHRITIS Adolescent Cohort Studies Extracellular Matrix Proteins Finland Genetic Association Studies Genetic Predisposition to Disease Genotype Haplotypes Humans Inheritance Patterns Interleukin-6 Intervertebral Disc Degeneration Logistic Models Magnetic Resonance Imaging Models Genetic Polymorphism Single Nucleotide Proteins Pyrophosphatases Young Adult 0604 Genetics 1103 Clinical Sciences |
spellingShingle |
Science & Technology Life Sciences & Biomedicine Genetics & Heredity INTERMEDIATE LAYER PROTEIN LOW-BACK-PAIN VITAMIN-D-RECEPTOR RISK-FACTORS LUMBAR ASSOCIATION DISEASE POLYMORPHISMS PROMOTER OSTEOARTHRITIS Adolescent Cohort Studies Extracellular Matrix Proteins Finland Genetic Association Studies Genetic Predisposition to Disease Genotype Haplotypes Humans Inheritance Patterns Interleukin-6 Intervertebral Disc Degeneration Logistic Models Magnetic Resonance Imaging Models Genetic Polymorphism Single Nucleotide Proteins Pyrophosphatases Young Adult 0604 Genetics 1103 Clinical Sciences Kelempisioti, A Eskola, PJ Okuloff, A Karjalainen, U Takatalo, J Daavittila, I Niinimaki, J Sequeiros, RB Tervonen, O Solovieva, S Kao, PYP Song, Y-Q Cheung, KMC Chan, D Ala-Kokko, L Jarvelin, M-R Karppinen, J Mannikko, M Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
topic_facet |
Science & Technology Life Sciences & Biomedicine Genetics & Heredity INTERMEDIATE LAYER PROTEIN LOW-BACK-PAIN VITAMIN-D-RECEPTOR RISK-FACTORS LUMBAR ASSOCIATION DISEASE POLYMORPHISMS PROMOTER OSTEOARTHRITIS Adolescent Cohort Studies Extracellular Matrix Proteins Finland Genetic Association Studies Genetic Predisposition to Disease Genotype Haplotypes Humans Inheritance Patterns Interleukin-6 Intervertebral Disc Degeneration Logistic Models Magnetic Resonance Imaging Models Genetic Polymorphism Single Nucleotide Proteins Pyrophosphatases Young Adult 0604 Genetics 1103 Clinical Sciences |
description |
Background Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defined and characterized cohort of young adults. Focusing on young age can be valuable in determining genetic predisposition to DD. Methods We investigated the associations of existing candidate genes for DD among 538 young adults with a mean age of 19 belonging to the 1986 Northern Finland Birth Cohort. Nineteen single nucleotide polymorphisms (SNP) in 16 genes were genotyped. We evaluated lumbar DD using the modified Pfirrmann classification and a 1.5-T magnetic resonance scanner for imaging. Results Of the 538 individuals studied, 46% had no degeneration, while 54% had DD and 51% of these had moderate DD. The risk of DD was significantly higher in subjects with an allele G of IL6 SNPs rs1800795 (OR 1.45, 95% CI 1.07-1.96) and rs1800797 (OR 1.37, 95% CI 1.02-1.85) in the additive inheritance model. The role of IL6 was further supported by the haplotype analysis, which resulted in an association between the GGG haplotype (SNPs rs1800797, rs1800796 and rs1800795) and DD with an OR of 1.51 (95% CI 1.11-2.04). In addition, we observed an association between DD and two other polymorphisms, SKT rs16924573 (OR 0.27 95% CI 0.07-0.96) and CILP rs2073711 in women (OR 2.04, 95% CI 1.07-3.89). Conclusion Our results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults. |
format |
Article in Journal/Newspaper |
author |
Kelempisioti, A Eskola, PJ Okuloff, A Karjalainen, U Takatalo, J Daavittila, I Niinimaki, J Sequeiros, RB Tervonen, O Solovieva, S Kao, PYP Song, Y-Q Cheung, KMC Chan, D Ala-Kokko, L Jarvelin, M-R Karppinen, J Mannikko, M |
author_facet |
Kelempisioti, A Eskola, PJ Okuloff, A Karjalainen, U Takatalo, J Daavittila, I Niinimaki, J Sequeiros, RB Tervonen, O Solovieva, S Kao, PYP Song, Y-Q Cheung, KMC Chan, D Ala-Kokko, L Jarvelin, M-R Karppinen, J Mannikko, M |
author_sort |
Kelempisioti, A |
title |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
title_short |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
title_full |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
title_fullStr |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
title_full_unstemmed |
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
title_sort |
genetic susceptibility of intervertebral disc degeneration among young finnish adults |
publisher |
BioMed Central |
publishDate |
2011 |
url |
http://hdl.handle.net/10044/1/85667 https://doi.org/10.1186/1471-2350-12-153 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
8 1 |
op_relation |
BMC Medical Genetics 1471-2350 http://hdl.handle.net/10044/1/85667 doi:10.1186/1471-2350-12-153 |
op_rights |
© 2011 Kelempisioti et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/2.0 |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.1186/1471-2350-12-153 |
container_title |
BMC Medical Genetics |
container_volume |
12 |
container_issue |
1 |
_version_ |
1766144854824321024 |