Human leukocyte antigen Class II associations in serum antimitochondrial antibodies (AMA)-positive and AMA-negative primary biliary cirrhosis

Julianne Stone, Judy A. Wade, Karen Cauch-Dudek, Chang Ng, Keith Lindor, E. Jenny Heathcote

Research output: Contribution to journalArticle

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Abstract

Background/Aims: An association of Class II HLA-DR8 antigen is reported in patients with serum antimitochondrial antibodies (AMA)-positive primary biliary cirrhosis (PBC); no information exists as to an association with AMA-negative PBC. We compared the frequency of HLA Class II genes in AMA-positive and AMA-negative PBC patients and healthy controls. Methods: Genomic DNA was extracted from the blood of 154 AMA-positive and 26 AMA-negative Caucasian PBC patients and from 216 healthy Caucasian controls and tested for the alleles at two HLA Class II loci, DRβ1 and DQβ1. Results: Higher allele frequencies of HLA-DRβ1*08 and DQβ1*04 were found in the AMA-positive PBC patients versus controls (14.9% vs. 6.5%, odds ratio (OR)= 3.3, global P= 0.03 and 14.4% vs. 6.5%, OR = 2.6, global P = 0.002). All patients positive for DRβ1*0801 were positive for the DQβ1*0402 allele, delta score = 22 for AMA-positive patients, 11 for controls. In AMA-negative PBC, the frequency of DRβ1*08 and DQβ1*04 was 0%, significantly different from the AMA-positive patients (P = 0.05, P: 0.05). Conclusions: AMA response may identify a group of PBC patients with a distinctive expression of the disease with the response associated with a gene(s) in the class II region of the major histocompatibility complex on the short arm of chromosome 6.

Original languageEnglish (US)
Pages (from-to)8-13
Number of pages6
JournalJournal of Hepatology
Volume36
Issue number1
DOIs
StatePublished - 2002
Externally publishedYes

Fingerprint

Biliary Liver Cirrhosis
HLA Antigens
Antibodies
Serum
HLA-DR1 Antigen
Alleles
Odds Ratio
MHC Class II Genes
Chromosomes, Human, Pair 6
Histocompatibility Antigens Class II
Major Histocompatibility Complex
Gene Frequency
Antibody Formation

Keywords

  • HLA system
  • Primary biliary cirrhosis

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Human leukocyte antigen Class II associations in serum antimitochondrial antibodies (AMA)-positive and AMA-negative primary biliary cirrhosis. / Stone, Julianne; Wade, Judy A.; Cauch-Dudek, Karen; Ng, Chang; Lindor, Keith; Heathcote, E. Jenny.

In: Journal of Hepatology, Vol. 36, No. 1, 2002, p. 8-13.

Research output: Contribution to journalArticle

Stone, Julianne ; Wade, Judy A. ; Cauch-Dudek, Karen ; Ng, Chang ; Lindor, Keith ; Heathcote, E. Jenny. / Human leukocyte antigen Class II associations in serum antimitochondrial antibodies (AMA)-positive and AMA-negative primary biliary cirrhosis. In: Journal of Hepatology. 2002 ; Vol. 36, No. 1. pp. 8-13.
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abstract = "Background/Aims: An association of Class II HLA-DR8 antigen is reported in patients with serum antimitochondrial antibodies (AMA)-positive primary biliary cirrhosis (PBC); no information exists as to an association with AMA-negative PBC. We compared the frequency of HLA Class II genes in AMA-positive and AMA-negative PBC patients and healthy controls. Methods: Genomic DNA was extracted from the blood of 154 AMA-positive and 26 AMA-negative Caucasian PBC patients and from 216 healthy Caucasian controls and tested for the alleles at two HLA Class II loci, DRβ1 and DQβ1. Results: Higher allele frequencies of HLA-DRβ1*08 and DQβ1*04 were found in the AMA-positive PBC patients versus controls (14.9{\%} vs. 6.5{\%}, odds ratio (OR)= 3.3, global P= 0.03 and 14.4{\%} vs. 6.5{\%}, OR = 2.6, global P = 0.002). All patients positive for DRβ1*0801 were positive for the DQβ1*0402 allele, delta score = 22 for AMA-positive patients, 11 for controls. In AMA-negative PBC, the frequency of DRβ1*08 and DQβ1*04 was 0{\%}, significantly different from the AMA-positive patients (P = 0.05, P: 0.05). Conclusions: AMA response may identify a group of PBC patients with a distinctive expression of the disease with the response associated with a gene(s) in the class II region of the major histocompatibility complex on the short arm of chromosome 6.",
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N2 - Background/Aims: An association of Class II HLA-DR8 antigen is reported in patients with serum antimitochondrial antibodies (AMA)-positive primary biliary cirrhosis (PBC); no information exists as to an association with AMA-negative PBC. We compared the frequency of HLA Class II genes in AMA-positive and AMA-negative PBC patients and healthy controls. Methods: Genomic DNA was extracted from the blood of 154 AMA-positive and 26 AMA-negative Caucasian PBC patients and from 216 healthy Caucasian controls and tested for the alleles at two HLA Class II loci, DRβ1 and DQβ1. Results: Higher allele frequencies of HLA-DRβ1*08 and DQβ1*04 were found in the AMA-positive PBC patients versus controls (14.9% vs. 6.5%, odds ratio (OR)= 3.3, global P= 0.03 and 14.4% vs. 6.5%, OR = 2.6, global P = 0.002). All patients positive for DRβ1*0801 were positive for the DQβ1*0402 allele, delta score = 22 for AMA-positive patients, 11 for controls. In AMA-negative PBC, the frequency of DRβ1*08 and DQβ1*04 was 0%, significantly different from the AMA-positive patients (P = 0.05, P: 0.05). Conclusions: AMA response may identify a group of PBC patients with a distinctive expression of the disease with the response associated with a gene(s) in the class II region of the major histocompatibility complex on the short arm of chromosome 6.

AB - Background/Aims: An association of Class II HLA-DR8 antigen is reported in patients with serum antimitochondrial antibodies (AMA)-positive primary biliary cirrhosis (PBC); no information exists as to an association with AMA-negative PBC. We compared the frequency of HLA Class II genes in AMA-positive and AMA-negative PBC patients and healthy controls. Methods: Genomic DNA was extracted from the blood of 154 AMA-positive and 26 AMA-negative Caucasian PBC patients and from 216 healthy Caucasian controls and tested for the alleles at two HLA Class II loci, DRβ1 and DQβ1. Results: Higher allele frequencies of HLA-DRβ1*08 and DQβ1*04 were found in the AMA-positive PBC patients versus controls (14.9% vs. 6.5%, odds ratio (OR)= 3.3, global P= 0.03 and 14.4% vs. 6.5%, OR = 2.6, global P = 0.002). All patients positive for DRβ1*0801 were positive for the DQβ1*0402 allele, delta score = 22 for AMA-positive patients, 11 for controls. In AMA-negative PBC, the frequency of DRβ1*08 and DQβ1*04 was 0%, significantly different from the AMA-positive patients (P = 0.05, P: 0.05). Conclusions: AMA response may identify a group of PBC patients with a distinctive expression of the disease with the response associated with a gene(s) in the class II region of the major histocompatibility complex on the short arm of chromosome 6.

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