@article{1308, keywords = {Alleles, Base Sequence, DNA Primers, Female, Genes, MHC Class I, Genetic Variation, Haplotypes, Histocompatibility Antigens Class I, Humans, India, leprosy, Linkage Disequilibrium, Male, Microsatellite Repeats, Polymorphism, Genetic}, author = {Tosh K and Ravikumar M and Bell JT and Meisner S and Hill A and Pitchappan R}, title = {Variation in MICA and MICB genes and enhanced susceptibility to paucibacillary leprosy in South India.}, abstract = {

In a study of mainly paucibacillary leprosy-affected sib-pair families from South India, in addition to the expected associations with the HLA-DRB1 locus, we have identified significant association with a functional variant of the MICA gene as well as a microsatellite in the flanking region of the MICB gene. The associations with MICA and MICB cannot be accounted for by linkage disequilibrium with the HLA class II locus indicating a role in genetic susceptibility to leprosy that is independent of HLA-DRB1. Previous studies have shown that MICA and MICB are expressed on the surface of cells in response to infection, where they are recognized by the NKG2D receptor on gammadelta T cells, CD8+ alphabeta T cells and natural killer cells, all of which contribute to defense against mycobacteria. The MICA*5A5.1 allele, associated here with leprosy susceptibility, encodes a protein lacking a cytoplasmic tail providing a possible mechanism for defective immune surveillance against mycobacteria.

}, year = {2006}, journal = {Human molecular genetics}, volume = {15}, pages = {2880-7}, month = {2006 Oct 01}, issn = {0964-6906}, url = {http://hmg.oxfordjournals.org/content/15/19/2880.full.pdf+html?sid=de3dbd9d-0ff5-4cf6-98cd-b9bfdc8cfdca}, doi = {10.1093/hmg/ddl229}, language = {eng}, }