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Spine (Phila Pa 1976) ; 41(21): 1661-1667, 2016 Nov 01.
Article in English | MEDLINE | ID: mdl-27798555

ABSTRACT

STUDY DESIGN: A case-control study of the Trp2/3 alleles of COL9A2/3 genes and their correlation with occurrence of Lumbar disc disease (DDD) as phenotyped by magnetic resonance imaging. OBJECTIVE: To establish a better understanding of relationship between presence of said alleles and occurrence of DDD in South-Western Iranian population. SUMMARY OF BACKGROUND DATA: A number of genetic predisposing factors have been identified in elevating the risk of developing DDD. Specifically, the Trp2 and Trp3 alleles of COL9A2 and COL9A3 genes have been suggested as DDD risk variants. METHODS: A total of 108 patients (mean age = 41±11.8 yrs, range = 20-66 yrs) with 57 controls (mean age = 35±10.0 yrs, range = 20-58 yrs) participated in the study. The frequency of G/A polymorphism in COL9A2 gene on location 326 on chromosome 1 and G/A/C/ or T polymorphism in 103 location of COL9A3 gene on chromosome 20 was assessed using a PCR short-primer technique. Outcome measure was defined as presence of DDD on MRI. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the likelihood of DDD given occurrence of Trp2(3). RESULTS: Each allele was present in both patients and controls. The Trp2 allele was positive in 28.5% of individuals (31.5% of patients; 22.8% of controls), OR 1.55 (0.71-3.56). The Trp3 allele, the frequency was 23.6% in all patients (26.9% patients; 17.5% controls), OR 1.72 (0.73-4.33). We observed a 5.8-fold increase in the odds of DDD in males when the Trp3 allele was present, OR 5.83 (1.09-9.98), P = 0.0273. CONCLUSION: Both Trp2 and Trp3 alleles occurred more frequently compared with other studied ethnicities. The sampled Iranian population exhibited a similar Trp2 frequency to a Southern Chinese population, and Trp3 occurrence to Finnish and Greek population. We found that male patient were much more likely to develop DDD when Trp 3 was present. LEVEL OF EVIDENCE: N/A.


Subject(s)
Collagen Type IX/genetics , Genetic Predisposition to Disease , Intervertebral Disc Degeneration/diagnostic imaging , Intervertebral Disc Degeneration/genetics , Lumbar Vertebrae/diagnostic imaging , Polymorphism, Single Nucleotide , Adult , Aged , Alleles , Asian People , Case-Control Studies , Female , Genetic Association Studies , Humans , Intervertebral Disc/diagnostic imaging , Iran , Magnetic Resonance Imaging , Male , Middle Aged , Phenotype , Sex Factors , White People , Young Adult
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