Does 77C→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

被引：50

作者：

Vorechovsky, I

Kralovicova, J

Tchilian, E

Masterman, T

Zhang, ZP

Ferry, B

Misbah, S

Chapel, H

Webster, D

Hellgren, D

Anvret, M

Hillert, J

Hammarstrom, L

Beverley, PC

机构：

[1] UCL, London, England

[2] NOVUM, Karolinska Inst, Dept Biosci, Stockholm, Sweden

[3] Edward Jenner Inst Vaccine Res, Compton, Berks, England

[4] Huddinge Univ Hosp, Karolinska Inst, Div Neurol, Stockholm, Sweden

[5] Sodertalje, AstraZeneca, Dept Mol Sci, Stockholm, Sweden

[6] John Radcliffe Hosp, Dept Immunol, Oxford OX3 9DU, England

来源：

NATURE GENETICS | 2001年 / 29卷 / 01期

关键词：

D O I：

10.1038/ng723

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 77G allele of the gene encoding CD45, also known as the protein tyrosine phosphatase receptor-type C gene (PTPRC), has been associated with multiple sclerosis (MS). Here we determine allele frequencies in large numbers of MS patients, primary immunodeficiencies linked to the major histocompatability complex (MHC) locus and over 1,000 controls to assess whether aberrant splicing of PTPRC caused by the 77C-->G polymorphism results in increased susceptibility to these diseases. Our results show no difference in the frequency of the 77G allele in patients and controls and thus do not support a causative role for the polymorphism in the development of disorders with a strong autoimmune component in etiology.

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页码：22 / 23

页数：2

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