Association of single nucleotide polymorphisms of the interleukin-10 promoter gene and susceptibility to primary biliary cirrhosis

Immunogenetic differences in Italian and Japanese patients

Masanao Matsushita, Atsushi Tanaka, Kentaro Kikuchi, Eriko Kitazawa, Naomi Kawaguchi, Yumi Kawashima, Takashi Kato, Hirotoshi Fujikawa, Stefano Quaranta, Floriano Rosina, M. Eric Gershwin, Hiroshi Miyakawa

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Several lines of data suggest that genetic factors play an important role in the onset and/or progression of primary biliary cirrhosis (PBC). Since PBC is an autoimmune disease, it is reasoned to assume that genes encoding cytokines may confer susceptibility to disease. Amongst these factors, interleukin-10 (IL-10) has received significant attention. The promoter region of IL-10 gene has three single nucleotide polymorphisms (SNPs) at positions - 1082, - 819 and - 592. To elucidate the association of the three SNPs of IL-10 promoter region with susceptibility of PBC in two different genetic populations, 159 unrelated patients with PBC (94 Italian and 65 Japanese) and 143 local controls (72 Italian and 71 Japanese) were enrolled. SNPs were determined using allele-specific PCR/RFLP. In Italian PBC patients, the frequency of homozygosity for G/G at position - 1082 was significantly higher than that of local controls (p < 0.041, OR = 2.44, 95% C.I.; 1.02-5.86). The frequencies of haplotype GCC in PBC patients, possibly linked to higher IL-10 production, were also significant higher than local controls (p < 0.033). However, in Japanese population, there were no significant differences in the three SNPs and haplotypes between PBC patients and controls. Excessive production of IL-10 may play an important role in some populations in modulating the onset of PBC. Further, immunogenetic studies of PBC should take into account ethnic and geographic variations; this makes such studies in heterogeneous population, like the USA, more difficult.

Original languageEnglish (US)
Pages (from-to)531-536
Number of pages6
JournalAutoimmunity
Volume35
Issue number8
DOIs
StatePublished - Dec 2002

Fingerprint

Immunogenetics
Biliary Liver Cirrhosis
Interleukin-10
Single Nucleotide Polymorphism
Genes
Genetic Promoter Regions
Haplotypes
Population
Disease Susceptibility
Population Genetics
Restriction Fragment Length Polymorphisms
Autoimmune Diseases
Alleles
Cytokines
Polymerase Chain Reaction

Keywords

  • Haplotypes
  • Interleukin-10
  • Primary biliary cirrhosis
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Association of single nucleotide polymorphisms of the interleukin-10 promoter gene and susceptibility to primary biliary cirrhosis : Immunogenetic differences in Italian and Japanese patients. / Matsushita, Masanao; Tanaka, Atsushi; Kikuchi, Kentaro; Kitazawa, Eriko; Kawaguchi, Naomi; Kawashima, Yumi; Kato, Takashi; Fujikawa, Hirotoshi; Quaranta, Stefano; Rosina, Floriano; Gershwin, M. Eric; Miyakawa, Hiroshi.

In: Autoimmunity, Vol. 35, No. 8, 12.2002, p. 531-536.

Research output: Contribution to journalArticle

Matsushita, M, Tanaka, A, Kikuchi, K, Kitazawa, E, Kawaguchi, N, Kawashima, Y, Kato, T, Fujikawa, H, Quaranta, S, Rosina, F, Gershwin, ME & Miyakawa, H 2002, 'Association of single nucleotide polymorphisms of the interleukin-10 promoter gene and susceptibility to primary biliary cirrhosis: Immunogenetic differences in Italian and Japanese patients', Autoimmunity, vol. 35, no. 8, pp. 531-536. https://doi.org/10.1080/0891693021000056703
Matsushita, Masanao ; Tanaka, Atsushi ; Kikuchi, Kentaro ; Kitazawa, Eriko ; Kawaguchi, Naomi ; Kawashima, Yumi ; Kato, Takashi ; Fujikawa, Hirotoshi ; Quaranta, Stefano ; Rosina, Floriano ; Gershwin, M. Eric ; Miyakawa, Hiroshi. / Association of single nucleotide polymorphisms of the interleukin-10 promoter gene and susceptibility to primary biliary cirrhosis : Immunogenetic differences in Italian and Japanese patients. In: Autoimmunity. 2002 ; Vol. 35, No. 8. pp. 531-536.
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AU - Kato, Takashi

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