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
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