MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population
•No association between MBL2 promoter SNPs (HL and XY) and susceptibility to TB.•Heterozygous X/Y genotype was significantly more frequent in pulmonary TB patients.•MBL2 exon 1 “O” allele, was associated with susceptibility to TB development.•C allele and A/C genotype at codon 57 were associated wit...
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creator | da Cruz, Heidi Lacerda Alves da Silva, Ronaldo Celerino Segat, Ludovica de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes Brandão, Lucas André Cavalcanti Guimarães, Rafael Lima Santos, Fabiana Cristina Fulco de Lira, Laís Ariane Siqueira Montenegro, Lilian Maria Lapa Schindler, Haiana Charifker Crovella, Sergio |
description | •No association between MBL2 promoter SNPs (HL and XY) and susceptibility to TB.•Heterozygous X/Y genotype was significantly more frequent in pulmonary TB patients.•MBL2 exon 1 “O” allele, was associated with susceptibility to TB development.•C allele and A/C genotype at codon 57 were associated with susceptibility to TB.•MBL2 exon 1 SNPs, specifically at codon 57, could be considered as risk factors for TB.
The innate immune system represents the first line of host defense against pathogens. Genetics factors regulating the immune responses play a role in the susceptibility to infectious diseases, such as tuberculosis (TB). We analyzed MBL2 promoter and exon 1 functional single nucleotide polymorphisms (SNPs) in a group of 155TB patients and 148 healthy controls in order to evaluate their influence on the onset of infection and TB development. There was no association between MBL2 −550 HL promoter polymorphisms and susceptibility to develop TB, but heterozygous −221 Y/X genotype was significantly more frequent in pulmonary TB patients than controls. Moreover, MBL2 exon 1 O allele, was significantly associated with susceptibility to TB development in general (p=0.023, OR=1.61, 95% CI 1.05–2.49) and pulmonary TB (p=0.0008, OR=2.16, 95% CI 1.35–3.46); C allele at codon 57, as well as A/C genotype, were significantly more frequent in TB patients than in controls. Our results indicate that MBL2 polymorphisms, especially at codon 57, could be considered as risk factors for TB development. |
doi_str_mv | 10.1016/j.meegid.2013.03.002 |
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The innate immune system represents the first line of host defense against pathogens. Genetics factors regulating the immune responses play a role in the susceptibility to infectious diseases, such as tuberculosis (TB). We analyzed MBL2 promoter and exon 1 functional single nucleotide polymorphisms (SNPs) in a group of 155TB patients and 148 healthy controls in order to evaluate their influence on the onset of infection and TB development. There was no association between MBL2 −550 HL promoter polymorphisms and susceptibility to develop TB, but heterozygous −221 Y/X genotype was significantly more frequent in pulmonary TB patients than controls. Moreover, MBL2 exon 1 O allele, was significantly associated with susceptibility to TB development in general (p=0.023, OR=1.61, 95% CI 1.05–2.49) and pulmonary TB (p=0.0008, OR=2.16, 95% CI 1.35–3.46); C allele at codon 57, as well as A/C genotype, were significantly more frequent in TB patients than in controls. Our results indicate that MBL2 polymorphisms, especially at codon 57, could be considered as risk factors for TB development.</description><identifier>ISSN: 1567-1348</identifier><identifier>EISSN: 1567-7257</identifier><identifier>DOI: 10.1016/j.meegid.2013.03.002</identifier><identifier>PMID: 23524205</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Brazil - epidemiology ; Case-Control Studies ; Female ; Genetic Predisposition to Disease - genetics ; Genotype ; Humans ; Innate immunity ; Male ; Mannose-Binding Lectin - genetics ; MBL2 ; Middle Aged ; Polymorphism, Single Nucleotide - genetics ; Polymorphisms ; Pulmonary ; Tuberculosis ; Tuberculosis, Pulmonary - epidemiology ; Tuberculosis, Pulmonary - genetics ; Young Adult</subject><ispartof>Infection, genetics and evolution, 2013-10, Vol.19, p.323-329</ispartof><rights>2013 Elsevier B.V.</rights><rights>Copyright © 2013 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-c3aa41cf24632bcceb0c99ea3d715efee83c00b1ae822da7c31cd4f6ee5bb5f83</citedby><cites>FETCH-LOGICAL-c408t-c3aa41cf24632bcceb0c99ea3d715efee83c00b1ae822da7c31cd4f6ee5bb5f83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.meegid.2013.03.002$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23524205$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>da Cruz, Heidi Lacerda Alves</creatorcontrib><creatorcontrib>da Silva, Ronaldo Celerino</creatorcontrib><creatorcontrib>Segat, Ludovica</creatorcontrib><creatorcontrib>de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes</creatorcontrib><creatorcontrib>Brandão, Lucas André Cavalcanti</creatorcontrib><creatorcontrib>Guimarães, Rafael Lima</creatorcontrib><creatorcontrib>Santos, Fabiana Cristina Fulco</creatorcontrib><creatorcontrib>de Lira, Laís Ariane Siqueira</creatorcontrib><creatorcontrib>Montenegro, Lilian Maria Lapa</creatorcontrib><creatorcontrib>Schindler, Haiana Charifker</creatorcontrib><creatorcontrib>Crovella, Sergio</creatorcontrib><title>MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population</title><title>Infection, genetics and evolution</title><addtitle>Infect Genet Evol</addtitle><description>•No association between MBL2 promoter SNPs (HL and XY) and susceptibility to TB.•Heterozygous X/Y genotype was significantly more frequent in pulmonary TB patients.•MBL2 exon 1 “O” allele, was associated with susceptibility to TB development.•C allele and A/C genotype at codon 57 were associated with susceptibility to TB.•MBL2 exon 1 SNPs, specifically at codon 57, could be considered as risk factors for TB.
The innate immune system represents the first line of host defense against pathogens. Genetics factors regulating the immune responses play a role in the susceptibility to infectious diseases, such as tuberculosis (TB). We analyzed MBL2 promoter and exon 1 functional single nucleotide polymorphisms (SNPs) in a group of 155TB patients and 148 healthy controls in order to evaluate their influence on the onset of infection and TB development. There was no association between MBL2 −550 HL promoter polymorphisms and susceptibility to develop TB, but heterozygous −221 Y/X genotype was significantly more frequent in pulmonary TB patients than controls. Moreover, MBL2 exon 1 O allele, was significantly associated with susceptibility to TB development in general (p=0.023, OR=1.61, 95% CI 1.05–2.49) and pulmonary TB (p=0.0008, OR=2.16, 95% CI 1.35–3.46); C allele at codon 57, as well as A/C genotype, were significantly more frequent in TB patients than in controls. Our results indicate that MBL2 polymorphisms, especially at codon 57, could be considered as risk factors for TB development.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Brazil - epidemiology</subject><subject>Case-Control Studies</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Humans</subject><subject>Innate immunity</subject><subject>Male</subject><subject>Mannose-Binding Lectin - genetics</subject><subject>MBL2</subject><subject>Middle Aged</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Polymorphisms</subject><subject>Pulmonary</subject><subject>Tuberculosis</subject><subject>Tuberculosis, Pulmonary - epidemiology</subject><subject>Tuberculosis, Pulmonary - genetics</subject><subject>Young Adult</subject><issn>1567-1348</issn><issn>1567-7257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtOwzAQRS0Eorz-ACEv2aSMH2nCBgkqXlIRG1hbjjOhrhI72A5S-XpStbBEutLM4szcmUvIOYMpAza7Wk07xA9bTzkwMYVRwPfIEctnRVbwvNjf9UzIckKOY1wBsAJ4eUgmXORccsiPiH65W3D6gQ5p79t150O_tLGLVLuaxiEa7JOtbGvTmiZP01BhMEPro43UOqqp8yEtUceEwdG7oL9HVrtxWT-0OlnvTslBo9uIZ7t6Qt4f7t_mT9ni9fF5frvIjIQyZUZoLZlpuJwJXhmDFZjra9SiLliODWIpDEDFNJac17owgplaNjPEvKryphQn5HK7tw_-c8CYVGfH89tWO_RDVExKIXkJBR9RuUVN8DEGbFQfbKfDWjFQm3DVSm3DVZtwFYyCzdjFzmGoOqz_hn7THIGbLYDjn18Wg4rGojNY24Amqdrb_x1-ACLwj58</recordid><startdate>201310</startdate><enddate>201310</enddate><creator>da Cruz, Heidi Lacerda Alves</creator><creator>da Silva, Ronaldo Celerino</creator><creator>Segat, Ludovica</creator><creator>de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes</creator><creator>Brandão, Lucas André Cavalcanti</creator><creator>Guimarães, Rafael Lima</creator><creator>Santos, Fabiana Cristina Fulco</creator><creator>de Lira, Laís Ariane Siqueira</creator><creator>Montenegro, Lilian Maria Lapa</creator><creator>Schindler, Haiana Charifker</creator><creator>Crovella, Sergio</creator><general>Elsevier B.V</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201310</creationdate><title>MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population</title><author>da Cruz, Heidi Lacerda Alves ; da Silva, Ronaldo Celerino ; Segat, Ludovica ; de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes ; Brandão, Lucas André Cavalcanti ; Guimarães, Rafael Lima ; Santos, Fabiana Cristina Fulco ; de Lira, Laís Ariane Siqueira ; Montenegro, Lilian Maria Lapa ; Schindler, Haiana Charifker ; Crovella, Sergio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-c3aa41cf24632bcceb0c99ea3d715efee83c00b1ae822da7c31cd4f6ee5bb5f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Brazil - epidemiology</topic><topic>Case-Control Studies</topic><topic>Female</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Humans</topic><topic>Innate immunity</topic><topic>Male</topic><topic>Mannose-Binding Lectin - genetics</topic><topic>MBL2</topic><topic>Middle Aged</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Polymorphisms</topic><topic>Pulmonary</topic><topic>Tuberculosis</topic><topic>Tuberculosis, Pulmonary - epidemiology</topic><topic>Tuberculosis, Pulmonary - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>da Cruz, Heidi Lacerda Alves</creatorcontrib><creatorcontrib>da Silva, Ronaldo Celerino</creatorcontrib><creatorcontrib>Segat, Ludovica</creatorcontrib><creatorcontrib>de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes</creatorcontrib><creatorcontrib>Brandão, Lucas André Cavalcanti</creatorcontrib><creatorcontrib>Guimarães, Rafael Lima</creatorcontrib><creatorcontrib>Santos, Fabiana Cristina Fulco</creatorcontrib><creatorcontrib>de Lira, Laís Ariane Siqueira</creatorcontrib><creatorcontrib>Montenegro, Lilian Maria Lapa</creatorcontrib><creatorcontrib>Schindler, Haiana Charifker</creatorcontrib><creatorcontrib>Crovella, Sergio</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Infection, genetics and evolution</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>da Cruz, Heidi Lacerda Alves</au><au>da Silva, Ronaldo Celerino</au><au>Segat, Ludovica</au><au>de Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes</au><au>Brandão, Lucas André Cavalcanti</au><au>Guimarães, Rafael Lima</au><au>Santos, Fabiana Cristina Fulco</au><au>de Lira, Laís Ariane Siqueira</au><au>Montenegro, Lilian Maria Lapa</au><au>Schindler, Haiana Charifker</au><au>Crovella, Sergio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population</atitle><jtitle>Infection, genetics and evolution</jtitle><addtitle>Infect Genet Evol</addtitle><date>2013-10</date><risdate>2013</risdate><volume>19</volume><spage>323</spage><epage>329</epage><pages>323-329</pages><issn>1567-1348</issn><eissn>1567-7257</eissn><abstract>•No association between MBL2 promoter SNPs (HL and XY) and susceptibility to TB.•Heterozygous X/Y genotype was significantly more frequent in pulmonary TB patients.•MBL2 exon 1 “O” allele, was associated with susceptibility to TB development.•C allele and A/C genotype at codon 57 were associated with susceptibility to TB.•MBL2 exon 1 SNPs, specifically at codon 57, could be considered as risk factors for TB.
The innate immune system represents the first line of host defense against pathogens. Genetics factors regulating the immune responses play a role in the susceptibility to infectious diseases, such as tuberculosis (TB). We analyzed MBL2 promoter and exon 1 functional single nucleotide polymorphisms (SNPs) in a group of 155TB patients and 148 healthy controls in order to evaluate their influence on the onset of infection and TB development. There was no association between MBL2 −550 HL promoter polymorphisms and susceptibility to develop TB, but heterozygous −221 Y/X genotype was significantly more frequent in pulmonary TB patients than controls. Moreover, MBL2 exon 1 O allele, was significantly associated with susceptibility to TB development in general (p=0.023, OR=1.61, 95% CI 1.05–2.49) and pulmonary TB (p=0.0008, OR=2.16, 95% CI 1.35–3.46); C allele at codon 57, as well as A/C genotype, were significantly more frequent in TB patients than in controls. Our results indicate that MBL2 polymorphisms, especially at codon 57, could be considered as risk factors for TB development.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>23524205</pmid><doi>10.1016/j.meegid.2013.03.002</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Adolescent Adult Brazil - epidemiology Case-Control Studies Female Genetic Predisposition to Disease - genetics Genotype Humans Innate immunity Male Mannose-Binding Lectin - genetics MBL2 Middle Aged Polymorphism, Single Nucleotide - genetics Polymorphisms Pulmonary Tuberculosis Tuberculosis, Pulmonary - epidemiology Tuberculosis, Pulmonary - genetics Young Adult |
title | MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population |
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