Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy.
J Med Genet. 2011 Mar;48(3):210-1. doi: 10.1136/jmg.2010.081380. Epub 2010 Oct 30.
The T allele of rs9657904 within the CBLB gene was recently found to be significantly associated with multiple sclerosis (MS) in a genome-wide association study in Sardinia.
To replicate this association in an independent population with a different genetic background.
The rs9657904 variant was typed in a sample of 1435 cases and 1466 controls from the Italian mainland.
It was found that in this sample also, the common allele T of rs9657904 is significantly positively associated (one-tailed p=7.35 × 10(-5)) and with a comparable effect size with MS (OR=1.31, 95% CI 1.14 to 1.52).
These data provide further evidence of the association of MS disease with variation within CBLB.
在撒丁岛的全基因组关联研究中，CBLB 基因中的 rs9657904T 等位基因与多发性硬化症（MS）显著相关。
在具有不同遗传背景的独立人群中复制这种关联。
对来自意大利大陆的 1435 例病例和 1466 例对照样本进行 rs9657904 变异分型。
在该样本中，也发现 rs9657904 的常见等位基因 T 与 MS 显著正相关（单侧 p=7.35×10(-5)），且与 MS 的效应大小相当（OR=1.31，95%CI 1.14 至 1.52）。
这些数据进一步提供了 MS 疾病与 CBLB 内变异相关的证据。
