Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli--a preliminary study.
Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli--a preliminary study.
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DOI：
10.1186/1477-5751-6-7
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发表时间：
2007-06-28
期刊：
影响因子：
--
通讯作者：
Maffulli N
中科院分区：
文献类型：
--
作者：
Kapoor B;Dunlop C;Wynn-Jones C;Fryer AA;Strange RC;Maffulli N
我们研究了发育性髋关节发育不良（DDH）和原发性髋臼突出（PPA）与维生素D受体多态性Taq I和Fok I以及雌激素受体多态性Pvu II和Xba I的相关性。45例DDH患者和20例PPA患者纳入研究。从同一地理区域招募18-60岁的健康对照组（n = 101）。对照组受试者的髋臼形态正常，这是基于最近因不相关原因进行的骨盆X线片。从所有受试者的外周血中获得DNA。比较三组的基因型频率。分析基因型与髋关节形态、疾病严重程度、发病年龄和性别之间的关系。雌激素受体Xba I野生型基因型（XX，与Xx和xx组合相比）在DDH组（55.8%）中比对照组（37.9%）更常见，尽管这未能达到统计学显著性（p = 0.053，比值比= 2.1，95%CI = 0.9-4.6）。在DDH组中，突变型Taq I维生素D受体t等位基因的纯合性与较高的髋臼指数相关（Mann-Whitney U检验，p = 0.03）。Pvu II pp雌激素受体基因型与低中心边缘角相关（p = 0.07）。这项研究表明，雌激素和维生素D受体的基因多态性与DDH的易感性和严重性之间可能存在相关性。Taq I维生素D受体多态性可能与导致DDH的髋臼形态异常相关，而Xba I雌激素受体XX基因型可能与DDH发生风险增加相关。在PPA组中没有发现这种相关性。
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.