Open AccessThe Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip
Author(s) -
Evren Gümüş,
Ebru Temiz,
Baran Sarıkaya,
Özgür Yüksekdağ,
Serkan Sipahioğlu,
Ataman Gönel
Publication year - 2020
Publication title -
indian journal of orthopaedics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.434
H-Index - 33
eISSN - 1998-3727
pISSN - 0019-5413
DOI - 10.1007/s43465-020-00235-y
Subject(s) - medicine , etiology , single nucleotide polymorphism , subluxation , population , genotype , gastroenterology , bioinformatics , genetics , pediatrics , pathology , biology , gene , alternative medicine , environmental health
Developmental dysplasia of the hip (DDH) is a complicated skeletal disease ranging from subluxation to complete dislocation of the hip as a result of insufficient development of the acetabulum and femur. To date, numerous genes such as C-X3-C motif chemokine receptor 1 ( CX3CR1 ), ubiquinol-cytochrome c reductase complex assembly factor 1 ( UQCC1 ) and growth/differentiation factor 5 ( GDF5 ), have been investigated to elucidate the underlying genetic etiology. Turkish population is one of the communities where DDH patients frequently observed, but almost no study has been conducted to elucidate the genetic etiology. In our study, we aimed to investigate the polymorphism of CX3CR1 rs3732378 and UQCC1 rs6060373, which have been shown to be associated with DDH in different populations. In addition, we aimed to investigate the BMP - 2 rs235768 polymorphism which has not been investigated in the etiology of DDH.