Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/34594
Title: Extent and distribution of linkage disequilibrium around the SLC11A1 locus
Authors: Yip, SP 
Leung, KH
Lin, CK
Keywords: Linkage disequilibrium
SLC11A1
NRAMP1
IL8RA
IL8RB
Candidate susceptibility genes
Issue Date: 2003
Publisher: Nature Publishing Group
Source: Genes and immunity, 2003, v. 4, no. 3, p. 212-221 How to cite?
Journal: Genes and immunity
Abstract: The SLC11A1 (or NRAMP1) locus on human chromosome 2q35 encodes for the protein solute carrier family 11, member 1. It is expressed in macrophages and involved in the early stages of macrophage priming and activation. Different association studies have shown that the SLC11A1 gene affects susceptibility to infectious diseases and autoimmune inflammatory diseases. Although functional SLC11A1 polymorphisms may account for its role in affecting the susceptibility to these diseases, the positive association can also be because of flanking polymorphisms showing linkage disequilibrium (LD) with this locus. This is the first systematic study to investigate the LD pattern within and around the gene. LD was investigated by genotyping 17 genetic markers in a Chinese population (n=360). The results indicate that LD is maintained at least 110 kb both upstream and downstream of the locus. The complex LD pattern demands that association studies with SLC11A1 should be carried out with both 5' and 3' markers. The strong LD between IL8RB and the 5' SLC11A1 markers also dictates that IL8RB be tested for association with these diseases. Thus, positive association with SLC11A1 should be interpreted cautiously, and IL8RB should also be considered as a potential candidate susceptibility gene unless proven otherwise.
URI: http://hdl.handle.net/10397/34594
ISSN: 1466-4879 (print)
1476-5470 (online)
DOI: 10.1038/sj.gene.6363944
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