TY - JOUR KW - Brazil KW - Case-Control Studies KW - DNA Mutational Analysis KW - Female KW - Genetic Markers KW - Humans KW - Immunity, Innate KW - Indians, South American KW - Interleukin-10 KW - leprosy KW - Male KW - polymerase chain reaction KW - Polymorphism, Single Nucleotide KW - Promoter Regions, Genetic KW - Quantitative Trait Loci AU - Malhotra D AU - Darvishi K AU - Sood S AU - Sharma S AU - Grover C AU - Relhan V AU - Reddy B S N AU - Bamezai R N K AB -

The minor haplotype -3575A/-2849G/-2763C in IL-10 promoter has been defined as a marker of disease resistance to leprosy and its severity in Brazilian population. Our investigation of six single-nucleotide polymorphisms (SNPs) in IL-10 promoter in 282 Indian leprosy patients and 266 healthy controls by direct PCR sequencing, however, showed that the extended haplotype: -3575T/-2849G/-2763C/-1082A/-819C/-592C was associated with resistance to leprosy per se and to the development of severe form of leprosy, using either a binomial (controls vs cases, P=0.01, OR=0.58, CI=0.37-0.89) or ordinal (controls vs paucibacillary vs multibacillary, P=0.004) model. Whereas, IL-10 haplotype -3575T/-2849G/-2763C/-1082A/-819T/-592A was associated with the risk of development of severe form of leprosy (P=0.0002) in contrast to the minor risk haplotype -3575T/-2849A/-2763C in the Brazilian population. The role of IL-10 promoter SNPs in Brazilian and Indian population strongly suggests the involvement of IL-10 locus in the outcome of leprosy.

BT - Human genetics C1 - http://www.ncbi.nlm.nih.gov/pubmed/16163478?dopt=Abstract DA - 2005 Nov DO - 10.1007/s00439-005-0042-8 IS - 2 J2 - Hum. Genet. LA - eng N2 -

The minor haplotype -3575A/-2849G/-2763C in IL-10 promoter has been defined as a marker of disease resistance to leprosy and its severity in Brazilian population. Our investigation of six single-nucleotide polymorphisms (SNPs) in IL-10 promoter in 282 Indian leprosy patients and 266 healthy controls by direct PCR sequencing, however, showed that the extended haplotype: -3575T/-2849G/-2763C/-1082A/-819C/-592C was associated with resistance to leprosy per se and to the development of severe form of leprosy, using either a binomial (controls vs cases, P=0.01, OR=0.58, CI=0.37-0.89) or ordinal (controls vs paucibacillary vs multibacillary, P=0.004) model. Whereas, IL-10 haplotype -3575T/-2849G/-2763C/-1082A/-819T/-592A was associated with the risk of development of severe form of leprosy (P=0.0002) in contrast to the minor risk haplotype -3575T/-2849A/-2763C in the Brazilian population. The role of IL-10 promoter SNPs in Brazilian and Indian population strongly suggests the involvement of IL-10 locus in the outcome of leprosy.

PY - 2005 SP - 295 EP - 300 T2 - Human genetics TI - IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy. VL - 118 SN - 0340-6717 ER -