IL12B SNPs and Copy number variation in IL23R gene associate with susceptibility to leprosy

Leprosy,a chronic infectious disease, continues to remain an important health problem in developing countries including India. The susceptibility to leprosy involves strong host genetic components inherited at birth. In a replicative case-control study from India, we identified the genetic variant in a pro-inflammatory IL12B cytokine gene subunit with a strong association with leprosy susceptibility, probably by affecting the binding of splicing factor(s). Gene-gene interaction analysis at multiple risk loci highlighted the importance of specific genetic backgrounds of immune response related genes in the outcome of M. leprae infection. Further a preliminary study, using a subset of samples, showed the increase in copy number of IL23R gene associated with pauci-bacillary form of leprosy which correlated with a trend towards enhanced expression in memory T cells. (By Prof. R.N.K.Bamezai, http://jmg.bmj.com/content/50/1/34 )