Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.

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

SUBMITTER: Harsanyi S 

PROVIDER: S-EPMC8303839 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature