Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35

被引：74

作者：

Shaw, MA ^{[1
]}

Clayton, D ^{[1
]}

Atkinson, SE ^{[1
]}

Williams, H ^{[1
]}

Miller, N ^{[1
]}

Sibthorpe, D ^{[1
]}

Blackwell, JM ^{[1
]}

机构：

[1] INST PUBL HLTH,MRC,BIOSTAT UNIT,CAMBRIDGE CB2 2SR,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 08期

基金：

英国惠康基金;

关键词：

linkage; rheumatoid arthritis; NRAMP1;

D O I：

10.1136/jmg.33.8.672

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL1 beta, and IMHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's repository of multicase rheumatoid arthritis families were typed for a dinucleotide repeat in the NRAMP1 promoter region and four other 2q34 (TNP1) or 2q35 (IL8R, VIL1, DES) marker genes. Identity by descent (IBD) sib pair analysis using a three locus haplotype NRAMP1-IL8RB-VIL1, or NRAMP1 alone, provided preliminary evidence (maximum led score = 1.01, p = 0.024) for a gene in this region contributing to susceptibility to rheumatoid arthritis. Candidacy for NRAMP1 as the disease susceptibility gene was supported by a significant bias (p=0.048) towards transmission of the NRAMP1 promoter region allele 3 in affected offspring.

引用

页码：672 / 677

页数：6

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