Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen’s disease) in Brazil
Autor: | Sarra E. Jamieson, Jenefer M. Blackwell, Márcia C. De Sousa Dias, Sérgio Ricardo Fernandes de Araújo, Gloria R. Monteiro, Carlos E. M. Gomes, Kathryn M. Dupnik, Mauricio Lisboa Nobre, Maria do Carmo Palmeira Queiroz, Pedro Bezerra da Trindade Neto, Selma M. B. Jeronimo |
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Jazyk: | angličtina |
Rok vydání: | 2014 |
Předmět: |
Male
Candidate gene Genotyping Techniques lcsh:QR1-502 lcsh:Microbiology 0302 clinical medicine Erythema Nodosum Child Aged 80 and over 0303 health sciences education.field_of_study biology Articles Middle Aged Leprosy Tuberculoid 3. Good health Leprosy Lepromatous Female Leprosy leprosy ErbB2 receptor Brazil Microbiology (medical) Adult lcsh:Arctic medicine. Tropical medicine Adolescent lcsh:RC955-962 030231 tropical medicine Population Single-nucleotide polymorphism Locus (genetics) Polymorphism Single Nucleotide 03 medical and health sciences Young Adult medicine Humans Genetic Predisposition to Disease education Genetic Association Studies 030304 developmental biology Aged business.industry Haplotype Odds ratio Genes erbB-2 medicine.disease biology.organism_classification Haplotypes Socioeconomic Factors Case-Control Studies Immunology business Mycobacterium Chromosomes Human Pair 17 genetic susceptibility |
Zdroj: | Memórias do Instituto Oswaldo Cruz., Vol 109, Iss 2, Pp 182-188 (2014) Memórias do Instituto Oswaldo Cruz Memórias do Instituto Oswaldo Cruz, Volume: 109, Issue: 2, Pages: 182-188, Published: MAR 2014 |
ISSN: | 1678-8060 |
Popis: | Leprosy remains prevalent in Brazil. ErbB2 is a receptor for leprosy bacilli entering Schwann cells, which mediates Mycobacterium leprae-induced demyelination and the ERBB2 gene lies within a leprosy susceptibility locus on chromosome 17q11-q21. To determine whether polymorphisms at the ERBB2 locus contribute to this linkage peak, three haplotype tagging single nucleotide polymorphisms (tag-SNPs) (rs2517956, rs2952156, rs1058808) were genotyped in 72 families (208 cases; 372 individuals) from the state of Para (PA). All three tag-SNPs were associated with leprosy per se [best SNP rs2517959 odds ratio (OR) = 2.22; 95% confidence interval (CI) 1.37-3.59; p = 0.001]. Lepromatous (LL) (OR = 3.25; 95% CI 1.37-7.70; p = 0.007) and tuberculoid (TT) (OR = 1.79; 95% CI 1.04-3.05; p = 0.034) leprosy both contributed to the association, which is consistent with the previous linkage to chromosome 17q11-q21 in the population from PA and supports the functional role of ErbB2 in disease pathogenesis. To attempt to replicate these findings, six SNPs (rs2517955, rs2517956, rs1810132, rs2952156, rs1801200, rs1058808) were genotyped in a population-based sample of 570 leprosy cases and 370 controls from the state of Rio Grande do Norte (RN) and the results were analysed using logistic regression analysis. However, none of the associations were replicated in the RN sample, whether analysed for leprosy per se, LL leprosy, TT leprosy, erythema nodosum leprosum or reversal reaction conditions. The role of polymorphisms at ERBB2 in controlling susceptibility to leprosy in Brazil therefore remains unclear. |
Databáze: | OpenAIRE |
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