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

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

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...

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Bibliographic Details
Published in:Indian journal of orthopaedics Vol. 49; no. 6; pp. 589 - 594
Main Authors: Anjankar, Shailendra D., Poornima, Subhadra, Raju, Subodh, Jaleel, M. A., Bhiladvala, Dilnavaz, Hasan, Qurratulain
Format: Journal Article
Language:English
Published: New Delhi Springer India 01-11-2015
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Medknow Publications & Media Pvt Ltd
Subjects:
Age
Back pain
Binding sites
Biomarkers
Classification
Collagen
Conservative Orthopedics
Deoxyribonucleic acid
Disease
DNA
Gene expression
Genes
Genetic polymorphisms
Genetic research
Health care
Medicine & Public Health
NMR
Nuclear magnetic resonance
Original
Original Article
Orthopedics
Population
Prolapse
Studies
Surgical Orthopedics
degenerated disc disease
disc prolapse
Intervertebral disc
Indian population
gene polymorphism
Collagen I alpha 1 gene
gene proteins
gene expression
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Summary: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.
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ISSN:0019-5413
1998-3727
DOI:10.4103/0019-5413.168765