Abstract
Developmental dysplasia of the hip (DDH) is quite common among Saudi Arabian babies. With an objective to assess the presence of SNP rs143383 and the alleles in the GDF5 gene among patients with DDH, parents, and unaffected siblings, we undertook this case-controlled study. We collected and analyzed for a functional single nucleotide polymorphism (SNP) in the 5-untranslated region of the GDF5 gene (rs143383), 473 blood samples, (100 patients, 200 parents, 73 siblings and 100 healthy controls. We determined the association between the patients' genotype and their fathers', mothers' and siblings' genotype through Chi-square analysis. The majority of those screened possessed the TC genotype, and 61.8% of patients and their fathers had the TT genotype. There was no association between patients' and fathers' genotype, P value<0.332, 95% CI (0.328-0.346), and between patients' and mothers', P<0.006, 95% CI (0.004-0.007). When considering DDH patients' and the control group's genotypes, the odds ratios of TT versus other combined (0.641>1) and CC versus other combined (0.474<1) revealed that the TT genotype has higher risk of developing DDH compared with the CC genotype. The 95 percent confidence interval of TT versus other combined and CC versus other combined is 0.932-2.891 and 0.208-1.078, respectively. For patients' and fathers' genotypes, the odds ratios of TT versus other combined (1.275>1) and CC versus other combined (0.815<1) indicate that the TT genotype has higher risk of exhibiting DDH compared to the CC genotype. For patients' and siblings' genotypes, the odds ratios of TT versus other combined (1.669) and CC versus other combined (1.048) specify that the TT genotype possesses higher risk of developing DDH compared with the CC genotype. Our study shows that there exists a relationship between GDF5 (SNP rs143383) and DDH in our population. Second, we found for the first time that the genotype TT and the T allele were overly expressed in the patients and the fathers. More studies on the confirmation of this genetic marker for DDH are called for.