Degenerated intervertebral disc prolapse and its association of collagen I alpha 1 Spl gene polymorphism

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.

Association of COL1A1 rs1800012 polymorphism with musculoskeletal degenerative diseases: a meta-analysis

“…No additional articles were selected through the manual search. Finally, seven studies [ 22 – 28 ] containing 1339 cases and 5406 controls fulfilled the predefined inclusion criteria and were included in the final analysis. The concrete characteristics of included studies were shown in Table 1 .…”

“…Some of the articles included in the present study describe the level of diseases in their case group. We defined the severe degree of diseases as the patient who had a Kellgren score of 3 or greater in IVDD [ 28 , 32 ] and the patient who had a joint space narrowing(JSN) score ≥ 3 in OA [ 33 , 34 ] or took a joint replacement due to OA. We defined the mild or moderate degree of diseases as the patient who suffered OA or IVDD but did not satisfy the criterion mentioned above.…”

“…Suprisingly, Tilkeridis et al [ 24 ] and Pluijm et al [ 25 ] got an opposite conclusion. Whereas the findings of Aerssens et al [ 26 ] , Loughlin et al [ 27 ] and Anjankar et al [ 28 ] showed no significant association of OA or IVDD with rs1800012. However, there is no meta-analysis investigating the association between musculoskeletal degenerative diseases and COL1A1 rs1800012 polymorphism up to now.…”

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

“…The COL1A1 gene is located on the long arm of chromosome 17 (17q21.3-q22) whereas the COL1A2 gene is located on the long arm of chromosome 7 (7q22.1). The COL1A1 gene consists of 52 exons and is 18kb in size 16 . It has been found that the substitution of G to T at the binding site of Sp1 (rs1800012) consequently led to enhanced expression of proteins concomitant with the increased binding affinity of Sp1.…”

Effect of Synthetic Progesterone (Norethisterone) on Human Chromosomes: A Cytogenetic Study From India

“…Women with bad obstetric history, Genetic syndromes, H/O exposure to radiation and chemicals, H/O hypertension, diabetes mellitus or Malignancy were excluded. Chromosomal analysis was carried out to find the effects of synthetic progesterone (Norethisterone) on human chromosomes in lymphocyte culture in vitro by the method routinely used in Genetic Laboratory as described by Anjankar SD et al [7]. All the 60 samples so collected were divided into 3 parts and group were named as A, B, & C. Group A with no progesterone exposure; Group B with 48 hours progesterone exposure at concentration of (75micro gm of Norethisterone/ ml of medium) and Group C with 48hours progesterone exposure at concentration of (100micro gm of Norethisterone /ml of medium).…”