Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis

被引：10

作者：

D'Alfonso, S

Mellai, M

Giordano, M

Pastore, A

Malferrari, G

Naldi, P

Repice, A

Liguori, M

Cannoni, S

Milanese, C

Caputo, D

Savettieri, G

Momigliano-Richiardi, P

机构：

[1] Univ Piemonte Orientale, Dipartimento Sci Med, Lab Genet Umana, I-28100 Novara, Italy

[2] Univ Milan, CISI, Ctr Interdisciplinare Studi Biomol & Applicaz Ind, Milan, Italy

[3] CNR, Ist Tecnol Biomed, I-00185 Rome, Italy

[4] Univ Piemonte Orientale, Dipartimento Sci Med, Neurol Clin, I-28100 Novara, Italy

[5] Univ Florence, Dipartimento Sci Neurol & Psichiatr, Florence, Italy

[6] Univ Bari, Dipartimento Sci Neurol & Psichiatr, Bari, Italy

[7] Univ Roma La Sapienza, Dipartimento Sci Neurol, Rome, Italy

[8] Ist C Besta, Ctr SM, Milan, Italy

[9] Ist C Besta, Div Biochim & Genet, Milan, Italy

[10] IRCCS, Fdn Gnocchi, Ctr Sclerosi Multipla, Milan, Italy

[11] Univ Palermo, Ist Neuropsichiatria, Palermo, Italy

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2002年 / 126卷 / 1-2期

关键词：

multiple sclerosis; MAG; genetic association; DNA pools; SNP;

D O I：

10.1016/S0165-5728(02)00061-9

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

The myelin-associated glycoprotein (MAG) gene is all appealing candidate in the 19q13 Multiple Sclerosis (MS) candidate region. Using denaturing high performance liquid chromatography (DHPLC), we identified 14 single nucleotide polymorphisms (SNPs) in MAG coding and regulatory regions, and we tested their possible association with MS in Italian patient and control DNA pools. Eight variations had a frequency <0.05, i.e. below the detection limit in the pools. Of these, Arg537Cys was further studied with individually genotyped individuals and was detected in 1/189 patients and 0/85 controls. The frequency of the six remaining SNPs were not significantly different in pools including a total of 1266 patient and 1612 control chromosomes. Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3. (C) 2002 Published by Elsevier Science B.V.

引用

页码：196 / 204

页数：9

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