| Summary: | 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 <i>IL6</i> gene, rs143383 located in the 5′ untranslated region (UTR) of the <i>GDF5</i> gene and rs726252 located in the fifth intron of the <i>PAPPA2</i> 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 <i>GDF5</i> gene (<i>p</i> = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of <i>IL6</i> and <i>PAPPA2</i>, we found no association with DDH (<i>p</i> = 0.363 and <i>p</i> = 0.478, respectively). Conclusions: These results suggest that there is an association between DDH and <i>GDF5</i> polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.
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