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Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population - a preliminary case-control study.

ABSTRACT: BACKGROUND:Genetic predisposition to ACL tears has received tremendous interest in the past few years with many SNPs of different genes being linked to ACL tear. STUDY OBJECTIVES:To examine if specific sequence variants in COL12A1 gene are associated with ACL tears in Indian population. STUDY DESIGN:Case-control study. MATERIALS AND METHODS:50 patients with surgically diagnosed ACL tear and 52 healthy, age-matched controls without any ligament/tendon injuries were genotyped for rs970547 and rs240736 SNPs using real time PCR method. RESULTS:The AG and GG genotypes were significantly under-represented in study group patients in rs970547 region (p=0.0361). However, there was no significant difference in genotype/allele frequencies in the rs240736 region. CONCLUSIONS:The COL12A1 rs970547 SNP is associated with ACL tears in the Indian population. However, these results need to be validated further so that predisposed individuals can be screened in the future for counselling and intervention. LEVEL OF EVIDENCE:III.

SUBMITTER: John R

PROVIDER: S-EPMC5115259 | biostudies-literature | 2016 Apr-Jun

REPOSITORIES: biostudies-literature

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Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population - a preliminary case-control study.

John Rakesh R Prabhakar Sharad S Dhillon Mandeep Singh MS Anand Akshay A Minhas Gillipsie G

Muscles, ligaments and tendons journal 20160401 2

<h4>Background</h4>Genetic predisposition to ACL tears has received tremendous interest in the past few years with many SNPs of different genes being linked to ACL tear.<h4>Study objectives</h4>To examine if specific sequence variants in COL12A1 gene are associated with ACL tears in Indian population.<h4>Study design</h4>Case-control study.<h4>Materials and methods</h4>50 patients with surgically diagnosed ACL tear and 52 healthy, age-matched controls without any ligament/tendon injuries were ge ...[more]

PMID: 27900301

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Project description:BackgroundIndependent transtibial pullout repair is a common surgical technique for repairing lateral meniscus posterior root tears (LMPRTs). The shared anterior cruciate ligament (ACL) bone tunnel technique is an alternative technique for LMPRT repair combined with ACL reconstruction (ACLR) to avoid the establishment of additional bone tunnels.PurposeTo compare the clinical outcomes of the shared ACL bone tunnel versus the independent transtibial pullout techniques for LMPRT repair combined with ACLR.Study designCohort study; Level of evidence, 3.MethodsBetween March 2014 and February 2018, a total of 48 patients were diagnosed with ACL injury with concomitant LMPRT; 22 patients underwent independent transtibial pullout repair (group T), and 26 patients underwent the shared ACL bone tunnel technique (group S). At a follow-up of >2 years, we compared knee functional recovery using the Lysholm, Tegner, and International Knee Documentation Committee scores and the pivot-shift test. Lateral meniscal extrusion, and cartilage degeneration on magnetic resonance imaging (MRI) scans were also compared. The healing status of the lateral meniscus posterior root was compared using second-look arthroscopy and MRI.ResultsThe duration of surgery was significantly shorter in group S compared with group T (98.3 ± 11.1 vs 127.9 ± 17.5 min; P = .001). At final follow-up, there were no significant differences between the 2 groups in knee functional scores, pivot shift, or grade of cartilage degeneration. Lateral meniscal extrusion was decreased in group S compared with group T (2.41 ± 0.61 vs 1.59 ± 1.35 mm; P = .014). Second-look arthroscopy revealed stable healing in 16 of 18 patients (88.9%) in group S and 10 of 15 patients (66.7%) in group T (P = .38).ConclusionBoth the shared ACL bone tunnel and the independent transtibial pullout techniques led to satisfactory clinical outcomes. The shared ACL bone tunnel technique is the simpler of the 2 procedures for combined LMPRT repair with ACLR.

Project description:BACKGROUND: Epidemiological studies have provided enough evidence that genetic factors have an important role in determining susceptibility to IBD. The most significant finding in the IBD research has been identification of mutations in the gene that encodes Nod2 (nucleotide-binding oligomerization domain 2) protein in a subgroup of patients with Crohn's disease. However, a very similar gene encoding Nod1 protein still has not been well documented for its association with ulcerative colitis patients. Detection of polymorphism in NOD1 gene using SNP analysis has been attempted in the present study. We evaluated frequency and significance of mutations present in the nucleotide-binding domain (NBD) of NOD1 gene in context to Indian population. METHODS: A total of 95 patients with ulcerative colitis and 102 controls enrolled in the Gastroenterology department of All India Institute of Medical Sciences, New Delhi were screened for SNPs by DHPLC and RFLP techniques. Exon 6 locus in the NBD domain of NOD1 gene was amplified and sequenced. Genotype and allele frequencies of the patients and controls were calculated by the Pearson's chi2 test, Fisher's exact test and ANOVA with Bonferroni's correction using SPSS software version 12. RESULTS: We have demonstrated DHPLC screening technique to show the presence of SNPs in Exon 6 locus of NBD domain of NOD1 gene. The DHPLC analysis has proven suitable for rapid detection of base pair changes. The data was validated by sequencing of clones and subsequently by RFLP analysis. Analyses of SNP data revealed 3 significant mutations (W219R, p = 0.002; L349P, p = 0.002 and L370R, p = 0.039) out of 5 in the Exon 6 locus of NBD domain of the gene that encompasses ATP and Mg2+binding sites. No significant association was observed within different sub phenotypes. CONCLUSION: We propose that the location of mutations in the Exon 6 spanning the ATP and Mg2+ binding site of NBD in NOD1 gene may affect the process of oligomerization and subsequent function of the LRR domain. Further studies are been conducted at the protein level to prove this possibility.

Project description:BACKGROUND: Despite the known multi-factorial nature of atrophic fracture non-unions, a possible genetic predisposition for the development of this complication after long bone fractures remains unknown. This pilot study aimed to address this issue by performing a preliminary SNP analysis of specific genes known to regulate fracture healing. METHODS: A total of fifteen SNPs within four genes of the Bone Morphogenetic Protein (BMP) pathway (BMP-2, BMP-7, NOGGIN and SMAD6) were examined, in 109 randomly selected patients with long bone fractures as a result of motor vehicle accident, fall or direct blow. There were sixty-two patients with atrophic non-union and forty-seven patients (54 fractures) with uneventful fracture union. Overall SNPs frequencies were computed with respect to patient's age, gender, smoking habits, fracture-associated parameters and the use of nonsteroidal anti-inflammatory drugs (NSAIDs), and tested for their association to the impaired bone healing process, using binary logistic regression (STATA 11.1; StataCorp, Texas USA). RESULTS: Statistical analysis revealed age to be an important covariate in the development of atrophic non-union (p = 0.01, OR 1.05 [per year]), and two specific genotypes (G/G genotype of the rs1372857 SNP, located on NOGGIN and T/T genotype of the rs2053423 SNP, located on SMAD6) to be associated with a greater risk of fracture non-union (p = 0.02, OR 4.56 and p = 0.04, OR 10.27, respectively, after adjustment for age). CONCLUSIONS: This is the first clinical study to investigate the potential existence of genetic susceptibility to fracture non-union. Even though no concrete conclusions can be obtained from this pilot study, our results indicate the existence of a potential genetically predetermined impairment within the BMP signalling cascade, initiated after a fracture and when combined with other risk factors could synergistically increase the susceptibility of a patient to develop non-union. Further research is desirable in order to clarify the genetic component and its role and interaction with other risk factors in the development of atrophic long bone non-union, as simple genetic testing may contribute to the early identification of patients at risk in the future and the on-time intervention at the biologic aspects of bone healing.

Dataset Information

Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population - a preliminary case-control study.

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Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population - a preliminary case-control study.

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