Zhang, F.-R., Huang, W., Chen, S.-M., Sun, L.-D., Liu, H., Li, Y., Cui, Y., Yan, X.-X., Yang, H.-T., Yang, R.-D. et al. Genomewide association study of leprosy. New England Journal of Medicine 361, 2609–2618 (2009)
Abstract:
BACKGROUND: The narrow host range of Mycobacterium leprae and the fact that it is refractory to growth in culture has limited research on and the biologic understanding of leprosy. Host genetic factors are thought to influence susceptibility to infection as well
as disease progression.
METHODS: We performed a two-stage genomewide association study by genotyping 706 patients and 1225 controls using the Human610-Quad BeadChip (Illumina). We then tested three independent replication sets for an association between the presence
of leprosy and 93 single-nucleotide polymorphisms (SNPs) that were most strongly
associated with the disease in the genomewide association study. Together, these
replication sets comprised 3254 patients and 5955 controls. We also carried out tests
of heterogeneity of the associations (or lack thereof) between these 93 SNPs and
disease, stratified according to clinical subtype (multibacillary vs. paucibacillary).
RESULTS: We observed a significant association (P