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

Ayman H Jawadi1, Anwar Wakeel, Waleed Tamimi

  • 1Pediatric Orthopedic Surgery Department, King Abdullah Specialized Children Hospital (KASCH), P.O. Box 22490, Riyadh 11426, Saudi Arabia. jaffala@ksau-hs.edu.sa.

Journal of Genetics
|September 29, 2018
PubMed

Insights

Genetic analysis of the vitamin D receptor (VDR) gene revealed no significant association with developmental dysplasia of the hip (DDH). Further research is needed to understand the genetic underpinnings of this congenital hip condition.

Area of Science:

  • Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Developmental dysplasia of the hip (DDH) is a congenital condition affecting hip joint development.
  • DDH has known risk factors and a suspected genetic component, with previous studies implicating various candidate genes involved in cartilage and joint metabolism.

Purpose of the Study:

  • To investigate the association between specific single-nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene and developmental dysplasia of the hip (DDH).

Main Methods:

  • A case-control study was conducted with 50 DDH cases and 50 controls.
  • Four VDR gene SNPs (rs731236, rs1544410, rs7975232, rs2228570) were genotyped using polymerase chain reaction (PCR) and restriction fragment-length polymorphism (RFLP).
  • Genotype and allele frequencies were analyzed using SPSS software.

Main Results:

  • No statistically significant associations were found between the studied VDR gene polymorphisms and the occurrence of DDH.
  • Analysis of genotype and allele frequencies did not reveal a link between these specific VDR SNPs and DDH.

Conclusions:

  • The investigated single-nucleotide polymorphisms in the vitamin D receptor gene are not significantly associated with developmental dysplasia of the hip in the studied population.
  • Genome-wide analysis is recommended for a comprehensive understanding of the genetic basis of DDH.

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