SUMMARY
Introduction: Developmental dysplasia of the hip (DDH) is a congenital disorder, which without therapy can lead to irreversible damage to the joint, secondary bone damage and gradual disability of the patient. It is a multifactorial condition that is affected by genetic, mechanical and environmental factors. The incidence of DDH varies between different populations and is affected by multiple risk factors (e.g. positive family history, gender, way of labor, presence of oligohydramnios, etc.). Many candidate genes have already been investigated in association with DDH and one of them is GDF5, which has a significant role in chondrogenesis, osteogenesis and joint development. The aim of this work was to analyze the association of DDH and GDF5 gene polymorphism in rs143383 in the Slovak population.
Material and methods: 120 patients were involved in this study, of which 40 with manifested and based on ultrasonography (USG) confirmed DDH diagnosis. The control group consisted of 80 healthy individuals examined at the Orthopaedic department of LF UK and NÚDCH in Bratislava. SNP rs143383 in the GDF5 gene was genotyped using Taqman Real-Time PCR Assay.
Results: The distribution of alleles and genotypes in patients with DDH differed from the expected distribution in a healthy population by a marginal statistical significance (p=0.10), while the distribution in the control group was concordant with the expected values. The “T” allele was found to be associated with DDH. In patients with homozygous “TT” form, there was a higher chance for a more severe form of the disease, which was also confirmed by the statistical significance of the association of genotype and USG classification (p = 0.002).
Conclusion: Our work suggests that there is an association in the Slovak population, not only in the occurrence but also in the severity of DDH and SNP rs143383 in the GDF5 gene.
Keywords: Developmental dysplasia of the Hip, DDH, genotyping, GDF5, rs143383.
Lek Obz, 2021, 70 (7-8): 248 – 251
Štefan HARSÁNYI 1, Radoslav ZAMBORSKÝ 2, Ľubica KRAJČIOVÁ 1, Katarína BEVÍZOVÁ 3, Milan KOKAVEC 2, Daniel BÖHMER 1, Ľuboš DANIŠOVIČ 1
1 Ústav lekárskej biológie, genetiky a klinickej genetiky, LF UK v Bratislave, prednosta doc. MUDr. D. Böhmer, PhD.
2 Ortopedická klinika, LF UK v Bratislave, prednosta prof. MUDr. M. Kokavec, PhD.
3 Anatomický ústav, LF UK v Bratislave, prednosta doc. MUDr. E. Kubíková, PhD.
Cite:
HARSÁNYI Š., ZAMBORSKÝ R., KRAJČIOVÁ Ľ., BEVÍZOVÁ K., KOKAVEC M., BÖHMER D., DANIŠOVIČ Ľ.: Association of rs143383 polymorphism in GDF5 with developmental dysplasia of the hip in Slovakia. Lek Obz, 2021, 70 (7-8): 248 – 251
