Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Eur J Hum Genet. 2010 Jul;18(7):838-43. doi: 10.1038/ejhg.2010.27. Epub 2010 Apr 7.
A marker in the LINGO1 gene, rs9652490, showing significant genome-wide association with essential tremor (ET), was recently reported in an Icelandic population. To replicate this association in an independent population from North America, we genotyped 15 SNPs in the LINGO1 gene in 257 Caucasian ET cases ('definite,' 'probable' or 'possible') and 265 controls enrolled in an epidemiological study at Columbia University. We observed a marginally significant association with allele G of the marker rs9652490 (P=0.0569, odds ratio (OR)=1.33). However, for 'definite' or 'probable' ET, rs9652490 was significantly associated with ET (P=0.03, OR=1.41). Our subsequent analysis of early-onset ET (age at onset <40 years) revealed that three SNPs, rs177008, rs13313467 and rs8028808, were significantly associated with ET (P=0.028, OR=1.52; P=0.0238, OR=1.54; and P=0.0391, OR=1.55, respectively). These three SNPs represent a 2.3 kb haplotype. Finally, a meta-analysis of three published studies confirms allelic association with rs9652490 and two adjacent SNPs. Our study independently confirms that the LINGO1 gene is a risk factor for ET in a Caucasian population in North America, and further shows that those with early-onset ET are likely to be at high risk.
LINGO1 基因中的一个标记物 rs9652490 最近在冰岛人群中与原发性震颤(ET)存在显著的全基因组关联。为了在北美的一个独立人群中复制这种关联,我们对哥伦比亚大学进行的一项流行病学研究中的 257 名高加索 ET 病例(“明确”、“可能”或“可能”)和 265 名对照者的 15 个 LINGO1 基因中的 SNP 进行了基因分型。我们观察到标记物 rs9652490 的等位基因 G 与该疾病存在边缘显著关联(P=0.0569,比值比(OR)=1.33)。然而,对于“明确”或“可能”的 ET,rs9652490 与 ET 显著相关(P=0.03,OR=1.41)。我们随后对早发性 ET(发病年龄<40 岁)的分析表明,三个 SNP,rs177008、rs13313467 和 rs8028808,与 ET 显著相关(P=0.028,OR=1.52;P=0.0238,OR=1.54;P=0.0391,OR=1.55)。这三个 SNP 代表一个 2.3 kb 的单倍型。最后,对三个已发表研究的荟萃分析证实了与 rs9652490 和两个相邻 SNP 的等位基因关联。我们的研究独立证实了 LINGO1 基因是北美的高加索人群中 ET 的一个风险因素,并且进一步表明那些具有早发性 ET 的人可能具有高风险。