02400nas a2200397 4500000000100000008004100001260001300042653001500055653001000070653001100080653001900091653003800110653001500148653001100163653001000174653001200184653000900196653001600205653002500221653003600246653003900282653003000321100001500351700001500366700001200381700001200393700001300405700001100418700001500429700001400444245016300458300001100621490000700632520134900639022001401988 2006 d c2006 Apr10aAdolescent10aAdult10aFemale10aGene Frequency10aGenetic Predisposition to Disease10aHaplotypes10aHumans10aIndia10aleprosy10aMale10aMiddle Aged10aMolecular Chaperones10aPolymorphism, Single Nucleotide10aRegulatory Sequences, Nucleic Acid10aUbiquitin-Protein Ligases1 aMalhotra D1 aDarvishi K1 aLohra M1 aKumar H1 aGrover C1 aSood S1 aReddy BS N1 aBamezai R00aAssociation study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population. a438-420 v143 a

Single nucleotide polymorphisms (SNPs) in the regulatory region shared by PARK2 and PACRG have been identified as major risk factors for leprosy susceptibility in two ethnically distinct populations. We investigated the association of six SNPs present in this regulatory region with leprosy susceptibility in an Indian population. Genotyping was performed by direct PCR sequencing in 286 leprosy patients and 350 healthy controls. Our results showed that T allele of SNPs PARK2_e01 (-2599) and 28 kb target_2_1 was significantly associated with susceptibility to leprosy per se (P=0.03 and 0.03, respectively). The T allele of SNPs PARK2_e01 (-2599) showed a significant recessive effect (P=0.04) in susceptibility to leprosy in Indian population as against the dominant effect of haplotype T-C of the major risk SNPs PARK2_e01 (-2599) and rs1040079 in Brazilian and Vietnamese population. However, after bonferroni corrections, these significant differences disappeared. Haplotype analysis also showed a lack of significant association of any haplotype with cases or controls. The noninvolvement of major risk SNPs in the regulatory region of PARK2 and PACRG locus with leprosy susceptibility in Indian population highlights the differential effect of these SNPs in regulating genetic susceptibility to leprosy in different populations.

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