Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis

被引：22

作者：

Alcina, Antonio ^{[1
]}

Fernandez, Oscar ^{[2
]}

Ramon Gonzalez, Juan ^{[3
,4
,5
]}

Catala-Rabasa, Antonio ^{[1
]}

Fedetz, Maria ^{[1
]}

Ndagire, Dorothy ^{[1
]}

Leyva, Laura ^{[2
]}

Guerrero, Miguel ^{[2
]}

Arnal, Carmen ^{[6
]}

Delgado, Concepcion ^{[7
]}

Lucas, Miguel ^{[8
]}

Izquierdo, Guillermo ^{[9
]}

Matesanz, Fuencisla ^{[1
]}

机构：

[1] CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18100, Spain

[2] Hosp Carlos Haya, Inst Neurociencias Clin, Serv Neurol, Malaga, Spain

[3] Hosp Virgen Nieves, CREAL, Granada, Spain

[4] Hosp Virgen Nieves, CIBERESP, Granada, Spain

[5] Hosp Virgen Nieves, IMIM, Granada, Spain

[6] Hosp Virgen Nieves, Serv Neurol, Granada, Spain

[7] Ctr Reg Transfus Sanguinea Granada Almeria, Almeria, Spain

[8] Hosp Virgen Macarena, Serv Biol Mol, Seville, Spain

[9] Hosp Virgen Macarena, Unidad Esclerosis Multiple, Seville, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2010年 / 18卷 / 07期

关键词：

Multiple sclerosis; Tag-SNP analysis; polymorphisms; GFI1-EVI5-RPL5-FAM69A genes; association; GWAS; INTERLEUKIN-7; RECEPTOR; FALSE DISCOVERY; EVI5; ASSOCIATION; PROTEIN; GENE;

D O I：

10.1038/ejhg.2009.240

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A recent genome-wide association study conducted by the International Multiple Sclerosis Genetic Consortium (IMSGC) identified, among others, a number of putative multiple sclerosis (MS) susceptibility variants at position 1p22. Twenty-one SNPs positively associated with MS were located at the GFI-EVI5-RPL5-FAM69A locus. In this study, we performed an analysis and fine mapping of this locus, genotyping eight Tag-SNPs in 732 MS patients and 974 controls from Spain. We observed an association with MS in three of eight Tag-SNPs: rs11804321 (P=0.008, OR=1.29; 95% CI=1.08-1.54), rs11808092 (P=0.048, OR=1.19; 95% CI=1.03-1.39) and rs6680578 (P=0.0082, OR=1.23; 95% CI=1.07-1.41). After correcting for multiple comparisons and using logistic regression analysis to test the addition of each SNP to the most associated SNPs, we observed that rs11804321 alone was sufficient to model the association. This Tag-SNP captures two SNPs in complete linkage disequilibrium (r(2)=1), both located within the 17th intron of the EVI5 gene. Our findings agree with the corresponding data of the recent IMSGC study and present new genetic evidence that points to EVI5 as a factor of susceptibility to MS. European Journal of Human Genetics (2010) 18, 827-831; doi: 10.1038/ejhg.2009.240; published online 20 January 2010

引用

页码：827 / 831

页数：5

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