TY - JOUR
KW - Alleles
KW - Brazil
KW - Case-Control Studies
KW - Chromosome Mapping
KW - Chromosomes, Human, Pair 6
KW - Gene Expression Profiling
KW - Genetic Predisposition to Disease
KW - Haplotypes
KW - Humans
KW - leprosy
KW - Molecular Chaperones
KW - Phenotype
KW - Polymorphism, Single Nucleotide
KW - Proteins
KW - RNA, Messenger
KW - Ubiquitin-Protein Ligases
KW - Vietnam
AU - Mira MT
AU - Alcaïs A
AU - Nguyen VT
AU - Moraes M
AU - Di Flumeri C
AU - Vu HT
AU - Mai CP
AU - Nguyen TH
AU - Nguyen NB
AU - Pham XK
AU - Sarno E
AU - Alter A
AU - Montpetit A
AU - Moraes M
AU - Moraes JR
AU - Doré C
AU - Gallant CJ
AU - Lepage P
AU - Verner A
AU - Van De Vosse E
AU - Hudson T
AU - Abel L
AU - Schurr E
AB - <p>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.</p>
BT - Nature
C1 - http://www.ncbi.nlm.nih.gov/pubmed/14737177?dopt=Abstract
CN - MIRA 2004
DA - 2004 Feb 12
DO - 10.1038/nature02326
IS - 6975
J2 - Nature
LA - eng
N2 - <p>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.</p>
PY - 2004
SP - 636
EP - 40
T2 - Nature
TI - Susceptibility to leprosy is associated with PARK2 and PACRG.
VL - 427
SN - 1476-4687
ER -