Marciano R, Giacopelli F, Divizia M T, Gattorno M, Felici E, Pistorio A, Martini A, Ravazzolo R, Picco P
Laboratory of Molecular Genetics, G Gaslini Institute, Largo G Gaslini 5, 16147 Genova, Italy.
Ann Rheum Dis. 2006 May;65(5):662-5. doi: 10.1136/ard.2005.040626. Epub 2005 Sep 8.
Oligoarticular onset juvenile idiopathic arthritis (JIA) has a variable disease course. In some patients the disease remains confined to a few joints (persistent oligoarticular) while in others it extends to affect more joints (oligoarticular extended). Osteopontin is thought to play a role in the pathogenesis.
To investigate whether a polymorphic variant in the human osteopontin gene, which is in linkage disequilibrium with recently characterised promoter variants, is associated with the disease course in oligoarticular JIA.
Genotyping of the two base pair insertion/deletion variant at +245 in the first intron was undertaken by polymerase chain reaction (PCR) amplification of DNA fragments, using a fluorescently labelled primer, followed by allele detection after rapid separation of PCR products on an automated DNA sequencer.
Allele 2 of the polymorphic variant in the osteopontin first intron was significantly associated with the persistent oligoarticular form rather than the extended form of JIA. This was verified at the level of genotype and allele frequencies.
The results suggest that osteopontin gene polymorphism is associated with the disease course in oligoarticular JIA and might therefore represent a useful genetic marker to characterise patients with oligoarticular JIA who are at risk of a worse outcome.
少关节型幼年特发性关节炎（JIA）的病程具有多样性。在一些患者中，疾病局限于少数关节（持续性少关节型），而在另一些患者中，疾病会扩展至更多关节（少关节扩展型）。骨桥蛋白被认为在发病机制中起作用。
研究人类骨桥蛋白基因中的一种多态性变体（该变体与最近鉴定的启动子变体处于连锁不平衡状态）是否与少关节型JIA的病程相关。
通过使用荧光标记引物对DNA片段进行聚合酶链反应（PCR）扩增，对第一内含子中+245处的两个碱基对插入/缺失变体进行基因分型，然后在自动DNA测序仪上快速分离PCR产物后进行等位基因检测。
骨桥蛋白第一内含子多态性变体的等位基因2与JIA的持续性少关节型显著相关，而非少关节扩展型。这在基因型和等位基因频率水平上得到了验证。
结果表明，骨桥蛋白基因多态性与少关节型JIA的病程相关，因此可能是一种有用的遗传标记，用于对预后较差风险的少关节型JIA患者进行特征描述。
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