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COL1A1基因和维生素D受体Taq 1多态性在识别有患骨质疏松症风险的个体中是否起作用?

Do the COL1A1 and Taq 1 vitamin D receptor polymorphisms have a role in identifying individuals at risk of developing osteoporosis?

作者信息

McClean E, Archbold G P R, Taggart H McA

机构信息

Department of Clinical Biochemistry, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB.

出版信息

Ulster Med J. 2003 May;72(1):26-33.

Abstract

The distribution of the Taq 1 polymorphism in the vitamin D receptor (VDR) gene and the MSc 1 polymorphism in the collagen 1 alpha 1 (COL1A1) gene were studied in 266 female and 55 male patients attending an osteoporosis clinic. Allele frequency in control (T- or Z-score >-1.0) and osteoporotic (T- or Z-scores <-2.5) groups were compared using Chi squared tests. No differences were found between the 2 groups with either of the polymorphisms. When allele frequency was compared in patients with and without history of fracture, no differences were found in the frequency of the COL1A1 alleles. However there were significantly more fracture patients, who had been previously treated with corticosteroids for other conditions, carrying the T allele of the VDR polymorphism (X2 = 5.65, p>0.01<0.02). In conclusion, neither of these polymorphisms aid in the prediction of osteoporosis but the VDRT allele may carry an increased fracture risk in patients who require corticosteroid treatment.

摘要

对一家骨质疏松症诊所的266名女性和55名男性患者,研究了维生素D受体(VDR)基因中的Taq 1多态性和1型胶原α1(COL1A1)基因中的MSc 1多态性的分布情况。使用卡方检验比较了对照组(T值或Z值>-1.0)和骨质疏松组(T值或Z值<-2.5)的等位基因频率。在两组之间,这两种多态性均未发现差异。当比较有骨折史和无骨折史患者的等位基因频率时,在COL1A1等位基因频率上未发现差异。然而,有更多先前因其他病症接受过皮质类固醇治疗的骨折患者携带VDR多态性的T等位基因(X2 = 5.65,p>0.01<0.02)。总之,这些多态性均无助于预测骨质疏松症,但VDR T等位基因可能会增加需要皮质类固醇治疗的患者的骨折风险。

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