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Extent and distribution of linkage disequilibrium around the SLC11A1 locus

Genes & Immunity volume 4, pages 212–221 (2003)Cite this article

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.

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  1. Biomedical Science Section, School of Nursing, The Hong Kong Polytechnic University, Hong Kong

    S P Yip & K H Leung

  2. Hong Kong Red Cross Blood Transfusion Service, Hong Kong

    C K Lin

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Correspondence to S P Yip.

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This work was financially supported by a Central Research Grant (G-V912) from The Hong Kong Polytechnic University. Purchase of the automated DNA sequencer was supported by a departmental fund (School of Nursing) and two other research grants awarded to SPY (1.53.27.8761 and 1.52.56.A362).

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Yip, S., Leung, K. & Lin, C. Extent and distribution of linkage disequilibrium around the SLC11A1 locus. Genes Immun 4, 212–221 (2003). https://doi.org/10.1038/sj.gene.6363944

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