EARLY-ONSET PAUCIARTICULAR JUVENILE CHRONIC ARTHRITIS IS ASSOCIATED WITH A MUTATION IN THE Y-BOX OF THE HLA-DQA1 PROMOTER

被引：46

作者：

HAAS, JP

KIMURA, A

TRUCKENBRODT, H

SUSCHKE, J

SASAZUKI, T

VOLGGER, A

ALBERT, ED

机构：

[1] UNIV MUNICH, CHILDRENS POLICLIN, IMMUNOGENET LAB, MUNICH, GERMANY

[2] KYUSHU UNIV, MED INST BIOREGULAT, DEPT GENET, FUKUOKA 812, JAPAN

[3] CHILDRENS RHEUMATOL HOSP, GARMISCH PARTENKIRCHEN, GERMANY

来源：

TISSUE ANTIGENS | 1995年 / 45卷 / 05期

关键词：

EARLY-ONSET PAUCIARTICULAR JUVENILE; CHRONIC ARTHRITIS; MUTATION; Y-BOX; HLA; DQA1; PROMOTER; JCA; JRA;

D O I：

10.1111/j.1399-0039.1995.tb02460.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 [细胞生物学]; 090102 [作物遗传育种];

摘要：

Early-onset pauciarticular juvenile chronic arthritis (EOPA-JCA) has associations with different alleles of the MHC region (HLA-A2, DR5, 6, 8, DQA1*0401, *0501, *0601 and DPB1*0201). All susceptible DQA1 alleles carry an exclusive sequence motif. MHC-class II gene expression is controlled by 5' flanking upstream regulatory regions (URR). A hypervariable region in the promoter region of the HLA-DQA1 gene (-240 and -200 base pairs upstream) defines ten different QAP (DQA1-Promoter) alleles, which are associated with certain DQA1-alleles. The Y-Box in the DQA1 promoter (YC-Box -125 to -115 upstream from the ATG) differs from the consensus sequence (-123 A for G) of all other MHC class II Y-Boxes, resulting in a lower affinity to the NF-Y transcription factor and in a reduced expression of DQA1. A second substitution in the Y-Box of QAP 4.1 and 4.2 (-119 A for G) is found in the promoter alleles of the DQA1-alleles (DQA1*0401, *0501, *0601) and is strongly associated with susceptibility to EOPA-JCA.

引用

页码：317 / 321

页数：5

共 30 条

[1]

Mathies H, Truckenbrodt H, Sanger L, Et al., Diaguostische Kriterien cler juvenilen chronischen Arthritiden, (1988)

[2]

Cassidy JT, Levinson JE, Bass JC, Et al., A study of classification criteria for a diagnosis of juvenile chronic arthritis, Arthritis Rheum, 29, pp. 274-281, (1986)

[3]

Oen K, Petty RE, Schroeder ML., An association between HLA‐A2 and juvenile rheumatoid arthritis in girls, J Rheumatiol, 9, pp. 916-920, (1982)

[4]

Stastny P, Fink CW., Different HLA‐D associations in adult and juvenile rheumatoid arthritis, J Clin Invest, 63, pp. 124-130, (1979)

[5]

Suciu-Foca N, Godfrey M, Jacobs J, Et al., Increased frequency of HLA‐DRw5 in pauciarticular JRA, Histocompatibility testing 1980, (1980)

[6]

Reekers P, Schretlen EDAM, van de Putte LBA., Increase of HLA‐DRw6 in patients with juvenile chronic arthritis, Tissue Antigens, 22, pp. 283-288, (1983)

[7]

Odum N, Morling N, Frus J, Et al., Increased frequency of HLA‐DPw2 in pauciarticular onset juvenile chronic arthritis, Tissue Antigens, 28, pp. 245-250, (1986)

[8]

Haas J.P, Andreas A, Rutkowsky B, Et al., A model for the role of HLA‐DQ molecules in the pathogenesis of juvenile chronic arthritis, Rheumatol Int, 11, pp. 191-197, (1991)

[9]

Sillivan KE, Peterlin BM., Transcriptional enhancers in the HLA‐DQ subregion, Mol Cell Biol, 7, 9, pp. 3315-3319, (1987)

[10]

Lee J.S., Regulation of HLA class II gene expression, Immunobiology of HLA, 2, pp. 49-62, (1989)

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