CD45 (PTPRC) as a candidate gene in multiple sclerosis

Tamara Vyshkina; Thomas P. Leist; Yin Yao Shugart; Bernadette Kalman

doi:10.1191/1352458504ms1115oa

CD45 (PTPRC) as a candidate gene in multiple sclerosis

Tamara Vyshkina, Thomas P. Leist, Yin Yao Shugart, Bernadette Kalman

School of Medicine

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Abstract

The 77C →G polymorphism in exon 4 of CD45 or protein tyrosine phosphatase receptor-type C (PTPRC) has been investigated in families with multiple sclerosis (MS) and in several cohorts of sporadic patients and controls, however with conflicting results. To better understand the role of this functionally important polymorphism in MS, we investigated the transmission of the 'G' allele from unaffected parents to their affected children in 176 families by using linkage and association statistics. The 'G' allele was transmitted to the affected offspring in five of the seven pedigrees carrying this allele and the TRANSMIT program detected association with a P = 0.0342. We conclude that the 77C →G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (

Original language	English (US)
Pages (from-to)	614-617
Number of pages	4
Journal	Multiple Sclerosis
Volume	10
Issue number	6
DOIs	https://doi.org/10.1191/1352458504ms1115oa
State	Published - Dec 2004

Keywords

CD45
Genetics
Multiple sclerosis

ASJC Scopus subject areas

Clinical Neurology

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abstract = "The 77C →G polymorphism in exon 4 of CD45 or protein tyrosine phosphatase receptor-type C (PTPRC) has been investigated in families with multiple sclerosis (MS) and in several cohorts of sporadic patients and controls, however with conflicting results. To better understand the role of this functionally important polymorphism in MS, we investigated the transmission of the 'G' allele from unaffected parents to their affected children in 176 families by using linkage and association statistics. The 'G' allele was transmitted to the affected offspring in five of the seven pedigrees carrying this allele and the TRANSMIT program detected association with a P = 0.0342. We conclude that the 77C →G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (",

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AU - Vyshkina, Tamara

AU - Leist, Thomas P.

AU - Shugart, Yin Yao

AU - Kalman, Bernadette

PY - 2004/12

Y1 - 2004/12

N2 - The 77C →G polymorphism in exon 4 of CD45 or protein tyrosine phosphatase receptor-type C (PTPRC) has been investigated in families with multiple sclerosis (MS) and in several cohorts of sporadic patients and controls, however with conflicting results. To better understand the role of this functionally important polymorphism in MS, we investigated the transmission of the 'G' allele from unaffected parents to their affected children in 176 families by using linkage and association statistics. The 'G' allele was transmitted to the affected offspring in five of the seven pedigrees carrying this allele and the TRANSMIT program detected association with a P = 0.0342. We conclude that the 77C →G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (

AB - The 77C →G polymorphism in exon 4 of CD45 or protein tyrosine phosphatase receptor-type C (PTPRC) has been investigated in families with multiple sclerosis (MS) and in several cohorts of sporadic patients and controls, however with conflicting results. To better understand the role of this functionally important polymorphism in MS, we investigated the transmission of the 'G' allele from unaffected parents to their affected children in 176 families by using linkage and association statistics. The 'G' allele was transmitted to the affected offspring in five of the seven pedigrees carrying this allele and the TRANSMIT program detected association with a P = 0.0342. We conclude that the 77C →G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (

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KW - Genetics

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CD45 (PTPRC) as a candidate gene in multiple sclerosis

Abstract

Keywords

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