Genetic susceptibility of intervertebral disc degeneration among young Finnish adults
Abstract 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 an...
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ftdoajarticles:oai:doaj.org/article:66ea30df591948dd81dd5b21b59b34c0 2023-05-15T17:42:48+02:00 Genetic susceptibility of intervertebral disc degeneration among young Finnish adults Kelempisioti Anthi Eskola Pasi J Okuloff Annaleena Karjalainen Ulla Takatalo Jani Daavittila Iita Niinimäki Jaakko Sequeiros Roberto B Tervonen Osmo Solovieva Svetlana Kao Patrick YP Song You-Qiang Cheung Kenneth MC Chan Danny Ala-Kokko Leena Järvelin Marjo-Riitta Karppinen Jaro Männikkö Minna 2011-11-01T00:00:00Z https://doi.org/10.1186/1471-2350-12-153 https://doaj.org/article/66ea30df591948dd81dd5b21b59b34c0 EN eng BMC http://www.biomedcentral.com/1471-2350/12/153 https://doaj.org/toc/1471-2350 doi:10.1186/1471-2350-12-153 1471-2350 https://doaj.org/article/66ea30df591948dd81dd5b21b59b34c0 BMC Medical Genetics, Vol 12, Iss 1, p 153 (2011) Internal medicine RC31-1245 Genetics QH426-470 article 2011 ftdoajarticles https://doi.org/10.1186/1471-2350-12-153 2022-12-31T10:11:07Z Abstract 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 Directory of Open Access Journals: DOAJ Articles BMC Medical Genetics 12 1 |
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Directory of Open Access Journals: DOAJ Articles |
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language |
English |
topic |
Internal medicine RC31-1245 Genetics QH426-470 |
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Internal medicine RC31-1245 Genetics QH426-470 Kelempisioti Anthi Eskola Pasi J Okuloff Annaleena Karjalainen Ulla Takatalo Jani Daavittila Iita Niinimäki Jaakko Sequeiros Roberto B Tervonen Osmo Solovieva Svetlana Kao Patrick YP Song You-Qiang Cheung Kenneth MC Chan Danny Ala-Kokko Leena Järvelin Marjo-Riitta Karppinen Jaro Männikkö Minna Genetic susceptibility of intervertebral disc degeneration among young Finnish adults |
topic_facet |
Internal medicine RC31-1245 Genetics QH426-470 |
description |
Abstract 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 Anthi Eskola Pasi J Okuloff Annaleena Karjalainen Ulla Takatalo Jani Daavittila Iita Niinimäki Jaakko Sequeiros Roberto B Tervonen Osmo Solovieva Svetlana Kao Patrick YP Song You-Qiang Cheung Kenneth MC Chan Danny Ala-Kokko Leena Järvelin Marjo-Riitta Karppinen Jaro Männikkö Minna |
author_facet |
Kelempisioti Anthi Eskola Pasi J Okuloff Annaleena Karjalainen Ulla Takatalo Jani Daavittila Iita Niinimäki Jaakko Sequeiros Roberto B Tervonen Osmo Solovieva Svetlana Kao Patrick YP Song You-Qiang Cheung Kenneth MC Chan Danny Ala-Kokko Leena Järvelin Marjo-Riitta Karppinen Jaro Männikkö Minna |
author_sort |
Kelempisioti Anthi |
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 |
BMC |
publishDate |
2011 |
url |
https://doi.org/10.1186/1471-2350-12-153 https://doaj.org/article/66ea30df591948dd81dd5b21b59b34c0 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
BMC Medical Genetics, Vol 12, Iss 1, p 153 (2011) |
op_relation |
http://www.biomedcentral.com/1471-2350/12/153 https://doaj.org/toc/1471-2350 doi:10.1186/1471-2350-12-153 1471-2350 https://doaj.org/article/66ea30df591948dd81dd5b21b59b34c0 |
op_doi |
https://doi.org/10.1186/1471-2350-12-153 |
container_title |
BMC Medical Genetics |
container_volume |
12 |
container_issue |
1 |
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1766144713907240960 |