Genetic predisposition to developmental dysplasia of the hip
Journal of Arthroplasty Sep 22, 2019
Kenanidis E, et al. - Forty-five studies were involved in order to assess current literature concerning all known chromosomes, loci, genes, and their polymorphisms that have been correlated or not with the prevalence and severity of developmental dysplasia of the hip (DDH). The bulk of genetic studies were candidate gene association studies evaluating Chinese populations with moderate methodological quality. Among the most commonly studied are the first, third, 12th,17th, and 20th chromosomes. No gene had a robust correlation with the DDH phenotype. Studies from various populations frequently report contrasting results on the same single-nucleotide polymorphism (SNP). The SNP rs143384 of the GDF5 gene on chromosome 20 exhibited the most sturdy correlation with the DDH phenotype in association studies. In linkage studies, the highest odds of coinheritance have been notified for regions of chromosome 3 and 13. Five SNPs have been related to the severity of DDH. Animal model studies verifying former human findings gave suggestive evidence of an inducing role of mutations of the GDF5, CX3CR1, and TENM3 genes in DDH etiopathogenesis. In conclusion, DDH is a complex disorder with environmental and genetic determinants. Nevertheless, no firm association between genotype and DDH phenotype prevails. Systematic genome assessment in studies with larger sample sizes, superior methodological quality, and evaluation of DDH patients is required to elucidate the DDH heredity. The role of next-generation sequencing techniques is likely.
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