Abstract
Background: Developmental dysplasia of the hip (DDH) is one of the most prevalent skeletal disorders. DDH is considered a pathologic condition with polygenic background, but environmental and mechanic factors significantly contribute to its multifactorial etiology. Inheritance consistent with autosomal dominant type has also been observed. Single-nucleotide polymorphisms (SNPs) in various genes mostly related to formation of connective tissue are studied for a possible association with DDH. Methods: We genotyped three SNPs, rs1800796 located in the promoter region of the IL6 gene, rs143383 located in the 5′ untranslated region (UTR) of the GDF5 gene and rs726252 located in the fifth intron of the PAPPA2 gene. The study consisted of 45 subjects with DDH and 85 controls from all regions of Slovakia. Results: Association between DDH occurrence and studied genotypes affected by aforementioned polymorphisms was confirmed in the case of rs143383 in the GDF5 gene (p = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of IL6 and PAPPA2, we found no association with DDH (p = 0.363 and p = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and GDF5 polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.
Highlights
Developmental dysplasia of the hip (DDH) is one the most prevalent skeletal disorders with an estimated incidence ranging from three to six cases per 1000 live births in European countries [1]
DDH is considered a pathologic condition with polygenic background, but environmental and mechanic factors do significantly contribute to its multifactorial etiology
The primary goal of the present study was to analyze the association of Single-nucleotide polymorphisms (SNPs) rs1800796 in the IL6 gene, rs143383 in the GDF5 gene and rs726252 in the PAPPA2 with DDH occurrence in the Caucasian population
Summary
Developmental dysplasia of the hip (DDH) is one the most prevalent skeletal disorders with an estimated incidence ranging from three to six cases per 1000 live births in European countries [1]. It is accompanied by a wide spectrum of anatomical abnormalities of the hip joint such as an incomplete formation of the acetabulum, leading to laxity of the joint capsule, secondary deformity of the proximal femur and irreducible hip dislocation [2]. Developmental dysplasia of the hip (DDH) is one of the most prevalent skeletal disorders.
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