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【medical-news】GDF5基因多态性与骨关节炎形成有关
研究人员测试了大约1500名日本人，他们的一种被称为GDF5的基因存在一种特殊变化，结果些人患上髋关节炎的几率比正常人大了80%。由Yoshinari Miyamoto领导的小组认为，这种基因变化可能减少了GDF5基因的产物，而这种产物对于关节软骨的产生非常重要。
对于日本和中国人群的研究还显示该基因异常和膝关节炎之间同样存在关系，尽管关系并不特别明显。
这种关节炎会对软骨造成损伤，从而使关节的两骨之间直接摩擦，世界卫生组织数据显示，它影响着全世界约1亿9千万人的健康。这种疾病的症状在男性中通常发生在45岁左右，而女性中则在55岁附近。
作者表示，GDF5基因和骨生成素密切相关，这能影响关节的形成。而早前针对老鼠及人类的研究表明这些变异会导致关节的异常。为了得到相关结果，Miyamoto和他的小组测序了24位的DNA，并检查了单个核苷的变化（SNP）。核苷是DNA的基本结构，在人类中99%都是一致的。SNP是基因组中的单个核苷和种群中的其它个体不一样情况，或者在同一个体的一对染色体之间不一致，这是90%的人类基因变异的原因。
一旦确定了可疑的DNA变异，科学家就会测试更多的关节炎患者以及对照组，然后在SNP和疾病间建立起联系。 Nat Genet. 2007 Apr;39(4):529-33. Epub 2007 Mar 25.
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S.
[1] Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1, Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. [2] These authors contributed equally to this work.
Osteoarthritis (MIM 165720), characterized by degeneration of articular cartilage, is the most common form of human arthritis and a major concern for aging societies worldwide. Epidemiological and genetic studies have shown that osteoarthritis is a polygenic disease. Here, we report that the gene encoding growth differentiation factor 5 (GDF5) is associated with osteoarthritis in Asian populations. A SNP in the 5' UTR of GDF5 (+104T/C; rs143383) showed significant association (P = 1.8 x 10(-13)) with hip osteoarthritis in two independent Japanese populations. This association was replicated for knee osteoarthritis in Japanese (P = 0.0021) and Han Chinese (P = 0.00028) populations. This SNP, located in the GDF5 core promoter, exerts allelic differences on transcriptional activity in chondrogenic cells, with the susceptibility allele showing reduced activity. Our findings implicate GDF5 as a susceptibility gene for osteoarthritis and suggest that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis. [标签:content1][标签:content2]
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作者:admin@医学,生命科学 2011-08-12 02:16
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