Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, Slovakia.
Orthopaedic Clinic, Faculty of Medicine, Comenius University in Bratislava and National Institute of Children's Diseases, Limbova 1, 833 40 Bratislava, Slovakia.
Genes (Basel). 2021 Jun 28;12(7):986. doi: 10.3390/genes12070986.
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.
We genotyped three SNPs, rs1800796 located in the promoter region of the gene, rs143383 located in the 5' untranslated region (UTR) of the gene and rs726252 located in the fifth intron of the gene. The study consisted of 45 subjects with DDH and 85 controls from all regions of Slovakia.
Association between DDH occurrence and studied genotypes affected by aforementioned polymorphisms was confirmed in the case of rs143383 in the gene ( = 0.047), where the T allele was over-expressed in the study group. Meanwhile, in the matter of and , we found no association with DDH ( = 0.363 and = 0.478, respectively).
These results suggest that there is an association between DDH and polymorphisms and that the T allele is more frequently presents in patients suffering from DDH.
发育性髋关节发育不良（DDH）是最常见的骨骼疾病之一。DDH 被认为是一种具有多基因背景的病理状况，但环境和力学因素对其多因素病因有重要影响。也观察到与常染色体显性遗传类型一致的遗传。研究了与结缔组织形成相关的各种基因中的单核苷酸多态性（SNP），以探讨其与 DDH 的可能关联。
我们对三个 SNP 进行了基因分型，rs1800796 位于基因的启动子区域，rs143383 位于基因的 5'非翻译区（UTR），rs726252 位于基因的第五内含子。该研究包括来自斯洛伐克所有地区的 45 名 DDH 患者和 85 名对照。
在基因 rs143383 中，DDH 发生与上述多态性影响的基因型之间存在关联（=0.047），研究组中 T 等位基因表达过度。同时，在基因和基因中，我们没有发现与 DDH 的关联（=0.363 和=0.478，分别）。
这些结果表明，DDH 与和基因多态性之间存在关联，并且 T 等位基因在患有 DDH 的患者中更为常见。
