Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria

<p>Abstract</p> <p>Background</p> <p>It has been previously demonstrated that a single nucleotide polymorphism (SNP) in the <it>IL13 </it>promoter region, <it>IL13 </it>-1055T>C (rs1800925), was associated with susceptibility to severe malaria in Thais. In the present study, fine association mapping for a cytokine gene cluster including <it>IL4</it>, <it>IL5</it>, and <it>IL13 </it>on chromosome 5q31 was conducted using the same malaria subjects to refine the region containing a primary variant or a haplotype susceptible to severe malaria.</p> <p>Methods</p> <p>A total of 82 SNPs spanning 522 kb of the 5q31 region were analysed in 368 patients with <it>Plasmodium falciparum </it>malaria (203 mild malaria and 165 severe malaria patients).</p> <p>Results</p> <p>Only rs1881457 located in the promoter region of <it>IL13</it>, which is in linkage disequilibrium with rs1800925 (r²= 0.73), showed a significant association with severe malaria after adjusting for multiple testing (P = 0.046 by permutation test). This SNP was in a haplotype block spanning 97 kb (from rs2069812 to rs2240032). The detected haplotype block contained the <it>RAD50 </it>gene and the promoter of <it>IL13</it>, but not the other genes.</p> <p>Conclusion</p> <p>A haplotype block in which a primary polymorphism associated with severe malaria is likely to be encoded was identified in Thai malaria patients.</p>

Abstract licence: CC BY-NC-ND

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