Singal D P, Li J, Zhu Y, Zhang G
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Tissue Antigens. 2000 Jan;55(1):44-7. doi: 10.1034/j.1399-0039.2000.550107.x.
Rheumatoid arthritis (RA) is a chronic inflammatory joint disease associated with HLA-DR genes that share amino acid sequence motif QKRAA/QRRAA from position 70 to 74 in the third hypervariable region of DR1 molecule. The contribution of HLA in RA is however about 37%, suggesting a role for other genes. One such candidate is the gene that encodes natural resistance-associated macrophage protein (NRAMP1), which plays a crucial role in inflammation and tissue destruction. In the present study, we examined the role of NRAMP1 gene polymorphisms in susceptibility to RA. The results show that variation at position 543 in exon 15, which involves substitution of negatively charged aspartic acid (D) by uncharged asparagine (N), and the deletion of TGTG in the 3' UTR may confer protection from development of RA.
类风湿性关节炎（RA）是一种与HLA - DR基因相关的慢性炎症性关节疾病，这些基因在DR1分子的第三个高变区第70至74位共享氨基酸序列基序QKRAA/QRRAA。然而，HLA在类风湿性关节炎中的贡献率约为37%，这表明其他基因也发挥作用。其中一个候选基因是编码天然抗性相关巨噬细胞蛋白（NRAMP1）的基因，它在炎症和组织破坏中起关键作用。在本研究中，我们检测了NRAMP1基因多态性在类风湿性关节炎易感性中的作用。结果表明，外显子15中第543位的变异，即带负电荷的天冬氨酸（D）被不带电荷的天冬酰胺（N）取代，以及3'非翻译区中TGTG的缺失，可能对类风湿性关节炎的发展具有保护作用。
