The Association Between BMP - 2 , UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip
- PDF / 665,959 Bytes
- 7 Pages / 595.276 x 790.866 pts Page_size
- 47 Downloads / 173 Views
ORIGINAL ARTICLE
The Association Between BMP‑2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip Evren Gumus1,2 · Ebru Temiz3 · Baran Sarikaya4 · Ozgur Yuksekdag3 · Serkan Sipahioglu4 · Ataman Gonel3 Received: 27 May 2020 / Accepted: 13 August 2020 © Indian Orthopaedics Association 2020
Abstract Objective 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. Methods Overall, 168 subjects (68 participants in the patient group, 100 participants in the control group) were investigated. The participants with following evidence and symptoms were excluded from the two groups: any systemic syndrome, another congenital anomaly, hereditary diseases, breech presentation, history of oligohydramnios, swaddling and high birth weight (> 4000 g). 3 single-nucleotide polymorphisms (SNP) were examined by qRT-PCR method. Results For CX3CR1 rs3732378 polymorphism, significant differences were observed in genotypes and allele frequencies (p 4000 g). 68 individuals in the patient group had DDH. The identification of DDH was made on the basis of medical history, clinical tests and pelvic radiographic/ ultrasonographic evidence by orthopedist. The control group included 100 DDH-free children that were registered from the same department. Power calculation was performed with a confidence level of 95% (alpha = 0,05) and a power of 80% (beta = 0,20). As a result of these analyses, our study was found to be suitable. 5 ml whole blood samples from patients diagnosed with DDH and control groups were collected into the tubes comprising ethylenediaminetetraacetic acid (EDTA) (BD, Franklin Lakes, NJ, USA). Then, QIAamp DNA Blood Mini kit (Qıagen, cat. no:51104, Hilden, Germany) was used to isolate DNA, quantitative-purity determinations and fluorometry analysis were performed, and 3 singlenucleotide polymorphisms (SNP) (Table 2) were detected by qRT-PCR method, performed by using TaqMan ® SNP Genotyping Assays (Thermo Fisher Scientific, cat. Table 1 Gender distribution of study groups Gender
Female Male
Patient group
Control group
Number
Percentage
Number
Percentage
P
33 35
48.5 51.5
52 48
52 48
0.754
Indian Journal of Orthopaedics
Resu
Data Loading...
