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Malar J. 2009 Oct 19;8:232. doi: 10.1186/1475-2875-8-232.

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

Author information

1
Doctoral Programme in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan. izumin-tky@umin.ac.jp

Abstract

BACKGROUND:

It has been previously demonstrated that a single nucleotide polymorphism (SNP) in the IL13 promoter region, IL13 -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 IL4, IL5, and IL13 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.

METHODS:

A total of 82 SNPs spanning 522 kb of the 5q31 region were analysed in 368 patients with Plasmodium falciparum malaria (203 mild malaria and 165 severe malaria patients).

RESULTS:

Only rs1881457 located in the promoter region of IL13, 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 RAD50 gene and the promoter of IL13, but not the other genes.

CONCLUSION:

A haplotype block in which a primary polymorphism associated with severe malaria is likely to be encoded was identified in Thai malaria patients.

PMID:
19840389
PMCID:
PMC2770543
DOI:
10.1186/1475-2875-8-232
[Indexed for MEDLINE]
Free PMC Article

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