2. Academic Validation
  3. Susceptibility to leprosy is associated with PARK2 and PACRG

Susceptibility to leprosy is associated with PARK2 and PACRG

  • Nature. 2004 Feb 12;427(6975):636-40. doi: 10.1038/nature02326.
Marcelo T Mira 1,  Alexandre Alcaïs,  Van Thuc Nguyen,  Milton O Moraes,  Celestino Di Flumeri,  Hong Thai Vu,  Chi Phuong Mai,  Thu Huong Nguyen,  Ngoc Ba Nguyen,  Xuan Khoa Pham,  Euzenir N Sarno,  Andrea Alter,  Alexandre Montpetit,  Maria E Moraes,  José R Moraes,  Carole Doré,  Caroline J Gallant,  Pierre Lepage,  Andrei Verner,  Esther Van De Vosse,  Thomas J Hudson,  Laurent Abel,  Erwin Schurr
Affiliations

Affiliation

  • 1 McGill Centre for the Study of Host Resistance and Department of Human Genetics, McGill University, 1650 Cedar Avenue, Montreal, PQ H3G1A4, Canada.
PMID: 14737177 DOI: 10.1038/nature02326
Abstract

Leprosy is caused by Mycobacterium leprae and affects about 700,000 individuals each year. It has long been thought that leprosy has a strong genetic component, and recently we mapped a leprosy susceptibility locus to chromosome 6 region q25-q26 (ref. 3). Here we investigate this region further by using a systematic association scan of the chromosomal interval most likely to harbour this leprosy susceptibility locus. In 197 Vietnamese families we found a significant association between leprosy and 17 markers located in a block of approx. 80 kilobases overlapping the 5' regulatory region shared by the Parkinson's disease gene PARK2 and the co-regulated gene PACRG. Possession of as few as two of the 17 risk alleles was highly predictive of leprosy. This was confirmed in a sample of 975 unrelated leprosy cases and controls from Brazil in whom the same alleles were strongly associated with leprosy. Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.

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