| 2009 |
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| Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the
susceptibility to severe malaria. |
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| Naka, I., Nishida, N., Patarapotikul, J., Nuchnoi, P., Tokunaga, K., Hananantachai, H., Tsuchiya,
N., and Ohashi, J. |
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| Doctoral Programme in Life System Medical Sciences, Graduate School of Comprehensive
Human Sciences, University of Tsukuba, Ibaraki, Japan izumin-tky@uminacjp |
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| 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 |
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| Published in:Malar.J. 8, 232. 2009. |
