Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase

Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study es...

Full description

Saved in:
Bibliographic Details
Main Authors: Henrique J. P. Gomes, Ricardo L. R. Souza, Flávia Costa Prevedello, Marcelo Távora Mira, Eleidi A. Chautard-Freire-Maia
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Journal of Tropical Medicine
Online Access:http://dx.doi.org/10.1155/2012/184819
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849306484505051136
author Henrique J. P. Gomes
Ricardo L. R. Souza
Flávia Costa Prevedello
Marcelo Távora Mira
Eleidi A. Chautard-Freire-Maia
author_facet Henrique J. P. Gomes
Ricardo L. R. Souza
Flávia Costa Prevedello
Marcelo Távora Mira
Eleidi A. Chautard-Freire-Maia
author_sort Henrique J. P. Gomes
collection DOAJ
description Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or near it: rs1126680, rs1803274, rs2863381, rs4440084, and rs4387996. A total of 167 patients and 150 healthy controls were genotyped by TaqMan PCR. Significantly higher allelic (70G) and genotypic (70DG) frequencies in rs1799807 were found in the patient group, with odds ratio (OR) of 6.33 (1.40 to 28.53) for the heterozygote. This finding was replicated in a comparison of the cases against a control group of 361 blood donors. The present data suggest that the atypical BChE variant may predispose to leprosy per se.
format Article
id doaj-art-323ced34ee5543a290db738ab49243fb
institution Kabale University
issn 1687-9686
1687-9694
language English
publishDate 2012-01-01
publisher Wiley
record_format Article
series Journal of Tropical Medicine
spelling doaj-art-323ced34ee5543a290db738ab49243fb2025-08-20T03:55:03ZengWileyJournal of Tropical Medicine1687-96861687-96942012-01-01201210.1155/2012/184819184819Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of ButyrylcholinesteraseHenrique J. P. Gomes0Ricardo L. R. Souza1Flávia Costa Prevedello2Marcelo Távora Mira3Eleidi A. Chautard-Freire-Maia4Department of Genetics, Federal University of Paraná, P.O. Box 19071, 81531-980 Curitiba, PR, BrazilDepartment of Genetics, Federal University of Paraná, P.O. Box 19071, 81531-980 Curitiba, PR, BrazilCore for Advanced Molecular Investigation, Medical School, Pontifical Catholic University of Paraná, Imaculada Conceição, 1155, 80215-901 Curitiba, PR, BrazilCore for Advanced Molecular Investigation, Medical School, Pontifical Catholic University of Paraná, Imaculada Conceição, 1155, 80215-901 Curitiba, PR, BrazilDepartment of Genetics, Federal University of Paraná, P.O. Box 19071, 81531-980 Curitiba, PR, BrazilLeprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or near it: rs1126680, rs1803274, rs2863381, rs4440084, and rs4387996. A total of 167 patients and 150 healthy controls were genotyped by TaqMan PCR. Significantly higher allelic (70G) and genotypic (70DG) frequencies in rs1799807 were found in the patient group, with odds ratio (OR) of 6.33 (1.40 to 28.53) for the heterozygote. This finding was replicated in a comparison of the cases against a control group of 361 blood donors. The present data suggest that the atypical BChE variant may predispose to leprosy per se.http://dx.doi.org/10.1155/2012/184819
spellingShingle Henrique J. P. Gomes
Ricardo L. R. Souza
Flávia Costa Prevedello
Marcelo Távora Mira
Eleidi A. Chautard-Freire-Maia
Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
Journal of Tropical Medicine
title Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
title_full Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
title_fullStr Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
title_full_unstemmed Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
title_short Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
title_sort investigation of association between susceptibility to leprosy and snps inside and near the bche gene of butyrylcholinesterase
url http://dx.doi.org/10.1155/2012/184819
work_keys_str_mv AT henriquejpgomes investigationofassociationbetweensusceptibilitytoleprosyandsnpsinsideandnearthebchegeneofbutyrylcholinesterase
AT ricardolrsouza investigationofassociationbetweensusceptibilitytoleprosyandsnpsinsideandnearthebchegeneofbutyrylcholinesterase
AT flaviacostaprevedello investigationofassociationbetweensusceptibilitytoleprosyandsnpsinsideandnearthebchegeneofbutyrylcholinesterase
AT marcelotavoramira investigationofassociationbetweensusceptibilitytoleprosyandsnpsinsideandnearthebchegeneofbutyrylcholinesterase
AT eleidiachautardfreiremaia investigationofassociationbetweensusceptibilitytoleprosyandsnpsinsideandnearthebchegeneofbutyrylcholinesterase