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日本男性强直性脊柱炎患者雄激素受体基因的多态性CAG重复序列

Polymorphic CAG repeats of the androgen receptor gene in Japanese male patients with ankylosing spondylitis.

作者信息

Mori K, Ushiyama T, Inoue K, Hukuda S

机构信息

Department of Orthopaedic Surgery, Shiga University of Medical Science, Seta, Otsu, 520-2192, Japan.

出版信息

Rheumatology (Oxford). 2000 May;39(5):530-2. doi: 10.1093/rheumatology/39.5.530.

DOI:10.1093/rheumatology/39.5.530
PMID:10852984
Abstract

OBJECTIVE

In view of a possible role of androgens in the pathogenesis of ankylosing spondylitis (AS), we investigated the association between Japanese male patients with AS and CAG microsatellites of the androgen receptor (AR) gene which related to the AR transactivation function.

METHODS

Peripheral blood was collected from 39 men with AS and 305 male control subjects. The number of CAG repeats in exon 1 of the AR gene was determined.

RESULTS

CAG repeat lengths in AS patients were significantly shorter than those in the controls (median value 22 vs 23; P = 0.03). However, there was no significant difference in CAG repeats between HLA-B27-positive and -negative patients (median value 22 vs 22; P = 0.78).

CONCLUSIONS

Shorter CAG repeats of the AR gene, presenting high levels of transactivation activity, may play a role in male AS.

摘要

目的

鉴于雄激素在强直性脊柱炎(AS)发病机制中可能发挥的作用,我们研究了日本男性AS患者与雄激素受体(AR)基因CAG微卫星之间的关联,该微卫星与AR反式激活功能相关。

方法

采集39例男性AS患者和305例男性对照者的外周血。测定AR基因第1外显子中CAG重复序列的数量。

结果

AS患者的CAG重复长度显著短于对照组(中位数分别为22和23;P = 0.03)。然而,HLA - B27阳性和阴性患者之间的CAG重复序列无显著差异(中位数分别为22和22;P = 0.78)。

结论

AR基因较短的CAG重复序列具有较高的反式激活活性,可能在男性AS中起作用。

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