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.

Anthi Kelempisioti

Pasi J Eskola

Annaleena Okuloff

Ulla Karjalainen

Jani Takatalo

Iita Daavittila

Jaakko Niinimäki

Roberto B Sequeiros

Osmo Tervonen

Svetlana Solovieva

Patrick YP Kao

You-Qiang Song

Kenneth MC Cheung

Danny Chan

Leena Ala-Kokko

Marjo-Riitta Järvelin

Jaro Karppinen

Minna Männikkö

BMC Medical Genetics

BMC MEDICAL GENETICS 是一本开放获取期刊，发表有关个人、家庭和人群之间遗传变异对人类健康和疾病的影响的原创同行评审研究文章。

BMC Medical Genetics is an open-access journal that publishes original peer-reviewed research articles on the impact of genetic variations among individuals, families, and populations on human health and disease.

BMC Medical Genetics 是一本开放获取的期刊，专注于发表原创的同行评审研究文章，探讨个人、家庭和人群之间的遗传变异如何影响人类健康和疾病。

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

The results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults.

年轻芬兰成人椎间盘退变的遗传易感性

Category	Quartile
医学	4
医学, 遗传学	4

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

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