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Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli – A preliminary study

Kapoor, Birender; Dunlop, Colin; Wynn-Jones, Charles; Fryer, Anthony A; Strange, Richard C; Maffulli, Nicola

Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli – A preliminary study Thumbnail


Authors

Birender Kapoor

Colin Dunlop

Charles Wynn-Jones

Richard C Strange

Nicola Maffulli



Abstract

We investigated the association of developmental dysplasia of the hip (DDH) and primary protrusion acetabuli (PPA) with Vitamin D receptor polymorphisms Taq I and Fok I and oestrogen receptor polymorphisms Pvu II and Xba I. 45 patients with DDH and 20 patients with PPA were included in the study. Healthy controls (n = 101) aged 18-60 years were recruited from the same geographical area. The control subjects had a normal acetabular morphology based on a recent pelvic radiograph performed for an unrelated cause. DNA was obtained from all the subjects from peripheral blood. Genotype frequencies were compared in the three groups. The relationship between the genotype and morphology of the hip joint, severity of the disease, age at onset of disease and gender were examined. The oestrogen receptor Xba I wild-type genotype (XX, compared with Xx and xx combined) was more common in the DDH group (55.8%) than controls (37.9%), though this just failed to achieve statistical significance (p = 0.053, odds ratio = 2.1, 95% CI = 0.9-4.6). In the DDH group, homozygosity for the mutant Taq I Vitamin D receptor t allele was associated with higher acetabular index (Mann-Whitney U-test, p = 0.03). Pvu II pp oestrogen receptor genotype was associated with low centre edge angle (p = 0.07). This study suggests a possible correlation between gene polymorphism in the oestrogen and vitamin D receptors and susceptibility to, and severity of DDH. The Taq I vitamin D receptor polymorphisms may be associated with abnormal acetabular morphology leading to DDH while the Xba I oestrogen receptor XX genotype may be associated with increased risk of developing DDH. No such correlations were found in the group with PPA.

Citation

Kapoor, B., Dunlop, C., Wynn-Jones, C., Fryer, A. A., Strange, R. C., & Maffulli, N. (2007). Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli – A preliminary study. Journal of Negative Results in BioMedicine, 6, Article 7. https://doi.org/10.1186/1477-5751-6-7

Journal Article Type Article
Acceptance Date Jun 28, 2007
Online Publication Date Jun 28, 2007
Publication Date Jun 28, 2007
Publicly Available Date May 26, 2023
Journal Journal of Negative Results in BioMedicine
Publisher Springer Verlag
Peer Reviewed Peer Reviewed
Volume 6
Article Number 7
DOI https://doi.org/10.1186/1477-5751-6-7
Keywords Acetabulum, Adult, Aged, Female, Hip Dislocation, Congenital, Humans, Male, Middle Aged, Polymorphism, Genetic, Restriction Fragment Length, Radiography, Receptors, Calcitriol, Estrogen
Publisher URL https://doi.org/10.1186/1477-5751-6-7
PMID 17598904

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