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...
Published in: | BMC Medical Genetics |
---|---|
Main Authors: | , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Springer Science and Business Media LLC
2011
|
Subjects: | |
Online Access: | http://dx.doi.org/10.1186/1471-2350-12-153 http://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf http://link.springer.com/article/10.1186/1471-2350-12-153/fulltext.html http://link.springer.com/content/pdf/10.1186/1471-2350-12-153 https://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf |
id |
crspringernat:10.1186/1471-2350-12-153 |
---|---|
record_format |
openpolar |
spelling |
crspringernat:10.1186/1471-2350-12-153 2023-05-15T17:42:49+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 http://dx.doi.org/10.1186/1471-2350-12-153 http://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf http://link.springer.com/article/10.1186/1471-2350-12-153/fulltext.html http://link.springer.com/content/pdf/10.1186/1471-2350-12-153 https://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf en eng Springer Science and Business Media LLC http://www.springer.com/tdm BMC Medical Genetics volume 12, issue 1 ISSN 1471-2350 Genetics (clinical) Genetics journal-article 2011 crspringernat https://doi.org/10.1186/1471-2350-12-153 2022-01-04T12:28:00Z 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 Springer Nature (via Crossref) BMC Medical Genetics 12 1 |
institution |
Open Polar |
collection |
Springer Nature (via Crossref) |
op_collection_id |
crspringernat |
language |
English |
topic |
Genetics (clinical) Genetics |
spellingShingle |
Genetics (clinical) Genetics 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 |
Genetics (clinical) Genetics |
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 |
Springer Science and Business Media LLC |
publishDate |
2011 |
url |
http://dx.doi.org/10.1186/1471-2350-12-153 http://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf http://link.springer.com/article/10.1186/1471-2350-12-153/fulltext.html http://link.springer.com/content/pdf/10.1186/1471-2350-12-153 https://link.springer.com/content/pdf/10.1186/1471-2350-12-153.pdf |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
BMC Medical Genetics volume 12, issue 1 ISSN 1471-2350 |
op_rights |
http://www.springer.com/tdm |
op_doi |
https://doi.org/10.1186/1471-2350-12-153 |
container_title |
BMC Medical Genetics |
container_volume |
12 |
container_issue |
1 |
_version_ |
1766144726773268480 |