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. 2015 Nov-Dec;49(6):589-94.
doi: 10.4103/0019-5413.168765.

Degenerated intervertebral disc prolapse and its association of collagen I alpha 1 Spl gene polymorphism: A preliminary case control study of Indian population

Shailendra D Anjankar  1 , Subhadra Poornima  2 , Subodh Raju  1 , M A Jaleel  1 , Dilnavaz Bhiladvala  1 , Qurratulain Hasan  2
Affiliations

Degenerated intervertebral disc prolapse and its association of collagen I alpha 1 Spl gene polymorphism: A preliminary case control study of Indian population

Shailendra D Anjankar et al. Indian J Orthop. 2015 Nov-Dec.

Abstract

Background: Degenerated disc disease (DDD) is a common disorder responsible for increased morbidity in a productive age group. Its etiology is multifactorial and genetic factors have been predominantly implicated. Disc prolapse results due to tear in the annulus, which is a fibrous structure composed largely of type I collagen. Functional polymorphism at the Sp1 site of the collagen I alpha 1 (COL1A1) gene has shown a positive association with DDD in Dutch and Greek populations. The purpose of this study was to assess COL1A1 Sp1 gene polymorphism in the Indian population.

Materials and methods: Fifty clinically and radiologically proven patients with disc prolapse requiring surgery were included as cases and 50 healthy, age-matched volunteers served as controls. After isolating DNA from their blood sample, genotyping for COL1A1 polymorphism (rs1800012) was performed and identified as GG, GT, and TT.

Results: The mean age and body mass index in cases and controls were similar. 76% of the patients were males. The most common site of disc degeneration was L4-L5 (36%), followed by L5-S1 (34%). Homozygous-GG, heterozygous GT, and homozygous TT genotypes were seen in 38 (76%), 10 (20%) and 2 (4%) cases respectively, controls had similar percentage of genotypes as well. The alleles in cases and the control group showed no significant difference (P = 0.6744) and followed the Hardy-Weinberg Equilibrium in the study population.

Conclusion: The COL1A1 (rs1800012) is in Hardy-Weinberg equilibrium in the present subset of Indian population. But taken as a single factor, it was not found to be associated with DDD in this preliminary study. Disc degeneration is multifactorial and also anticipated to be a result of multiple genes involvement and gene-gene interaction.

Keywords: Collagen I alpha 1 gene; Indian population; Intervertebral disc; degenerated disc disease; disc prolapse; gene expression; gene polymorphism; gene proteins.

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Figures

Figure 1
Figure 1
(a) pictorial representation showing disc prolapse due to tear in the annulus (Purple arrow) (b) magnetic resonance imaging (MRI) T2W axial cut and (c) MRI T2W sagittal images showing disc prolapse at L5S1 level
Figure 2
Figure 2
Diagrammatic representation of collagen I alpha 1 gene locus on chromosome 17, and functional polymorphism at the Sp1 site from guanine (G) to thymidine (T)
Figure 3
Figure 3
Ethidium bromide-stained 2% agarose gel picture showing bands corresponding to GG, GT and TT genotypes
Figure 4
Figure 4
Collagen I alpha 1 gene polymorphism in cases with intervertebral disc disease and healthy volunteers
See this image and copyright information in PMC

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