Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis

Manabu Osoegawa, Masaaki Niino, Hirofumi Ochi, Seiji Kikuchi, Hiroyuki Murai, Toshiyuki Fukazawa, Motozumi Minohara, Kunio Tashiro, Jun Ichi Kira

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

We evaluated the association of the plasma platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphism (G994→T) and PAF-AH activity with susceptibility and severity of multiple sclerosis (MS) in Japanese. DNA was collected from 216 patients with clinically definite MS (65 opticospinal MS (OS-MS) and 151 conventional MS (C-MS)) and from 213 healthy controls. The missense mutation G994→T that disrupts the PAF-AH activity was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No statistically significant difference in the frequency of genotypes and alleles of the plasma PAF-AH polymorphism was observed among OS-MS patients, C-MS patients and healthy controls. However, the missense mutation tended to be associated with the severity of OS-MS, especially in females (GT/TT genotypes; 51.7% in female rapidly progressive OS-MS vs. 26.6% in female controls, p=0.0870). Moreover, PAF-AH activities were significantly lower in MS than in controls, irrespective of clinical subtypes, among those carrying the identical polymorphism in terms of nucleotide position 994 of the PAF-AH gene. These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS.

Original languageEnglish
Pages (from-to)150-156
Number of pages7
JournalJournal of Neuroimmunology
Volume150
Issue number1-2
DOIs
Publication statusPublished - May 1 2004

Fingerprint

Platelet Activating Factor
Multiple Sclerosis
Genes
Missense Mutation
Genotype
Gene Frequency
Restriction Fragment Length Polymorphisms
Opticospinal Multiple Sclerosis
Nucleotides
Polymerase Chain Reaction
Mutation
DNA

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Neurology
  • Clinical Neurology

Cite this

Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis. / Osoegawa, Manabu; Niino, Masaaki; Ochi, Hirofumi; Kikuchi, Seiji; Murai, Hiroyuki; Fukazawa, Toshiyuki; Minohara, Motozumi; Tashiro, Kunio; Kira, Jun Ichi.

In: Journal of Neuroimmunology, Vol. 150, No. 1-2, 01.05.2004, p. 150-156.

Research output: Contribution to journalArticle

Osoegawa, Manabu ; Niino, Masaaki ; Ochi, Hirofumi ; Kikuchi, Seiji ; Murai, Hiroyuki ; Fukazawa, Toshiyuki ; Minohara, Motozumi ; Tashiro, Kunio ; Kira, Jun Ichi. / Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis. In: Journal of Neuroimmunology. 2004 ; Vol. 150, No. 1-2. pp. 150-156.
@article{3783b54b1abe483d81c5cdc15256dbf7,
title = "Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis",
abstract = "We evaluated the association of the plasma platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphism (G994→T) and PAF-AH activity with susceptibility and severity of multiple sclerosis (MS) in Japanese. DNA was collected from 216 patients with clinically definite MS (65 opticospinal MS (OS-MS) and 151 conventional MS (C-MS)) and from 213 healthy controls. The missense mutation G994→T that disrupts the PAF-AH activity was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No statistically significant difference in the frequency of genotypes and alleles of the plasma PAF-AH polymorphism was observed among OS-MS patients, C-MS patients and healthy controls. However, the missense mutation tended to be associated with the severity of OS-MS, especially in females (GT/TT genotypes; 51.7{\%} in female rapidly progressive OS-MS vs. 26.6{\%} in female controls, p=0.0870). Moreover, PAF-AH activities were significantly lower in MS than in controls, irrespective of clinical subtypes, among those carrying the identical polymorphism in terms of nucleotide position 994 of the PAF-AH gene. These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS.",
author = "Manabu Osoegawa and Masaaki Niino and Hirofumi Ochi and Seiji Kikuchi and Hiroyuki Murai and Toshiyuki Fukazawa and Motozumi Minohara and Kunio Tashiro and Kira, {Jun Ichi}",
year = "2004",
month = "5",
day = "1",
doi = "10.1016/j.jneuroim.2004.01.008",
language = "English",
volume = "150",
pages = "150--156",
journal = "Journal of Neuroimmunology",
issn = "0165-5728",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis

AU - Osoegawa, Manabu

AU - Niino, Masaaki

AU - Ochi, Hirofumi

AU - Kikuchi, Seiji

AU - Murai, Hiroyuki

AU - Fukazawa, Toshiyuki

AU - Minohara, Motozumi

AU - Tashiro, Kunio

AU - Kira, Jun Ichi

PY - 2004/5/1

Y1 - 2004/5/1

N2 - We evaluated the association of the plasma platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphism (G994→T) and PAF-AH activity with susceptibility and severity of multiple sclerosis (MS) in Japanese. DNA was collected from 216 patients with clinically definite MS (65 opticospinal MS (OS-MS) and 151 conventional MS (C-MS)) and from 213 healthy controls. The missense mutation G994→T that disrupts the PAF-AH activity was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No statistically significant difference in the frequency of genotypes and alleles of the plasma PAF-AH polymorphism was observed among OS-MS patients, C-MS patients and healthy controls. However, the missense mutation tended to be associated with the severity of OS-MS, especially in females (GT/TT genotypes; 51.7% in female rapidly progressive OS-MS vs. 26.6% in female controls, p=0.0870). Moreover, PAF-AH activities were significantly lower in MS than in controls, irrespective of clinical subtypes, among those carrying the identical polymorphism in terms of nucleotide position 994 of the PAF-AH gene. These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS.

AB - We evaluated the association of the plasma platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphism (G994→T) and PAF-AH activity with susceptibility and severity of multiple sclerosis (MS) in Japanese. DNA was collected from 216 patients with clinically definite MS (65 opticospinal MS (OS-MS) and 151 conventional MS (C-MS)) and from 213 healthy controls. The missense mutation G994→T that disrupts the PAF-AH activity was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No statistically significant difference in the frequency of genotypes and alleles of the plasma PAF-AH polymorphism was observed among OS-MS patients, C-MS patients and healthy controls. However, the missense mutation tended to be associated with the severity of OS-MS, especially in females (GT/TT genotypes; 51.7% in female rapidly progressive OS-MS vs. 26.6% in female controls, p=0.0870). Moreover, PAF-AH activities were significantly lower in MS than in controls, irrespective of clinical subtypes, among those carrying the identical polymorphism in terms of nucleotide position 994 of the PAF-AH gene. These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS.

UR - http://www.scopus.com/inward/record.url?scp=1842636920&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1842636920&partnerID=8YFLogxK

U2 - 10.1016/j.jneuroim.2004.01.008

DO - 10.1016/j.jneuroim.2004.01.008

M3 - Article

C2 - 15081260

AN - SCOPUS:1842636920

VL - 150

SP - 150

EP - 156

JO - Journal of Neuroimmunology

JF - Journal of Neuroimmunology

SN - 0165-5728

IS - 1-2

ER -