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

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.

The Demographics of Canine Hip Dysplasia in the United States and Canada

“…Increased body weight increases the stress across the developing hip joint leading to subluxation [17, 42, 43]. Vitamin D plays a role in DDH, as humans with homozygosity for the mutant Taq1 vitamin D receptor t allele demonstrate increased acetabular dysplasia [44]. Vitamin D levels may vary by season due to seasonal variation in vitamin D dietary content in both humans and animals [45–52].…”

Acetabular dysplasia as an aetiological factor in development of hip osteoarthritis

“…However, one possible risk factor in the Sámi population for developmental dysplasia of the hip (DDH) was the earlier tradition of wrapping up the child and laying it in the Sámi/ Lapp cradle with the hips extended and adducted. Also, the Sámi population examined in this study live north of the Arctic circle, where the sun totally disappears for some months yearly, and a possible link between vitamin D and DDH can be suspected [11].…”

Association of oestrogen receptor gene polymorphism with the long-term results of rotational acetabular osteotomy

“…A genetic aetiology has been proposed in those with AD [15]. Hereditary factors, particularly sex hormones such as oestrogen, may be strongly associated with congenital dislocation of the hip and AD [19]. Kapoor et al reported that ER gene polymorphism XbaI gene polymorphism was more common in AD than in controls.…”

“…Genetic variation in hormone-related genes may represent a possible determinant of the risk or severity, especially when considering the possible effect of joint laxity on AD [2]. In Caucasians, oestrogen receptor (ER) and vitamin D receptor (VDR) gene polymorphism may be associated with AD, although no statistical significance has been observed [19]. An rotational acetabular osteotomy (RAO) is frequently performed to treat patients with symptomatic AD who show less than 20°of centre-edge (CE) angle to forestall the expected progress of degenerative change of the hip joint [25][26][27].…”