Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip

• Published in: Journal of genetics 2018-09, Vol.97 (4), p.925-930
• Main Authors: Jawadi, Ayman H., Wakeel, Anwar, Tamimi, Waleed, Nasr, Amre, Iqbal, Zafar, Mashhour, Abdullah, Fattah, Mohamed A., Alkhanein, Nawaf, Jaffal, Ahmad S. Abu
• Format: Article
• Language: English
• Subjects: Acetabulum; Alfacalcidol; Alleles; Analysis; Animal Genetics and Genomics; Association analysis; Biomedical and Life Sciences; Calcifediol; Cartilage; Developmental Disabilities - genetics; Developmental Disabilities - physiopathology; Dysplasia; Ethylenediaminetetraacetic acid; Evolutionary Biology; Female; Gene Frequency; Gene polymorphism; Genes; Genetic analysis; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Hip; Hip Dislocation - genetics; Hip Dislocation - physiopathology; Hip joint; Humans; Life Sciences; Male; Microbial Genetics and Genomics; Musculoskeletal diseases; Physiological aspects; Plant Genetics and Genomics; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide; Receptors, Calcitriol - genetics; Research Article; Risk Factors; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Vitamin D; Vitamin D receptors
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-018-0984-y

Developmental dysplasia of the hip (DDH) is a congenital condition characterized by abnormality in acetabulum size and/or shape. The incidence rate of DDH differs between different populations with risk factors including positive family history, breech presentation, sex, firstborn status, side of the hip, mode of delivery and oligohydramnios. It is recognized that DDH has a genetic component that exhibit autosomal dominant patterns. Many candidate genes have been studied and found to be associated with the disease; most of them are normally involved in cartilage development and joint metabolism. In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case–control analysis. The study sample involves 50 cases with confirmed DDH presentation and 50 nonDDH controls. SNPs were genotyped using conventional polymerase chain reaction (PCR) and restriction fragment-length polymorphism (RFLP) techniques. Genotype and allele frequencies were analysed using SPSS software. No significant associations were found between the VDR polymorphisms analysed and DDH. Further work need to be performed using genomewide analysis to elucidate the genetic basis of DDH.