Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population
Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host's immune response, environmental factors, and the genetic background of the host. Specifically, the host's innate...
Gespeichert in:
| Veröffentlicht in: | PloS one 2023-03, Vol.18 (3), p.e0281553-e0281553 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | e0281553 |
|---|---|
| container_issue | 3 |
| container_start_page | e0281553 |
| container_title | PloS one |
| container_volume | 18 |
| creator | Bustos, Mónica Alexandra Castañeda-Castañeda, Luz Dary Acosta, Carmen Rosa García, Diana Bohada, Diana Patricia Rodríguez, Raúl Guerrero, Martha Inírida |
| description | Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host's immune response, environmental factors, and the genetic background of the host. Specifically, the host's innate immune response, encoded by genes, determines their susceptibility to developing leprosy post-infection. Polymorphic variants in the nucleotide-binding oligomerization domain 2 (NOD2) gene are associated with leprosy among populations in a variety of endemic areas around the world. Colombia, a country located in the tropical zone, has several leprosy-endemic regions, including Norte de Santander. The aim of this study was to analyze the rs7194886, rs2111234, rs3135499, and rs8057341 single nucleotide polymorphisms (SNPs) in the NOD2 gene using a case-control study to determine whether they confer greater or lesser susceptibility to the development of leprosy.
The TaqMan qPCR amplification system was used for SNPs detection.
An association between the A-rs8057341 SNP (p = 0,006286) and resistance to leprosy was found. However, the rs3135499 (p = 0,9063) and rs2111234 (p = 0.1492) were not found to be associated with leprosy susceptibility. In addition, the rs7194886 SNP was not found to be in Hardy-Weinberg equilibrium (HWE) in the study population. The GAG haplotype, consisting of SNPs rs2111234-G, rs3135499-A, and rs8057341G, acts as a susceptibility factor for the development of leprosy in women. SNPs rs3135499 and rs8057341 are functionally related to decreased NOD2 expression according to an in-silico analysis.
The SNPs rs8057341-A was related with resistance to leprosy and the haplotype rs2111234-G, rs3135499-A and rs8057341-G SNPs was related with susceptibility in the Norte de Santander Colombia, studied population. |
| doi_str_mv | 10.1371/journal.pone.0281553 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_plos_</sourceid><recordid>TN_cdi_plos_journals_2783727914</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A739784729</galeid><doaj_id>oai_doaj_org_article_d3891e47f5fe4fc2b2a36805a5745966</doaj_id><sourcerecordid>A739784729</sourcerecordid><originalsourceid>FETCH-LOGICAL-c692t-8db6f036650810ddfa499e215c3cb3a1eda686d910615d675e73c8b6c10b33aa3</originalsourceid><addsrcrecordid>eNqNk1trFDEUxwdRbK1-A9FAQRS6ay6Tmw_CUm-FYsGqryGTyeymZCZjMqPu5_GLmt2dlq70QeZhDsnvf87JuRTFUwTniHD0-iqMsdN-3ofOziEWiFJyrzhEkuAZw5Dcv2UfFI9SuoKQEsHYw-KAMME5E_Cw-LNIKRinBxc6EBowrCyICSOEMClPskkQoaWUG1NAykmJQB_8ug2xX7nUJuC6rejzxTsMlraz4JcbVsDbPoa0fgMWwOhkZyZ0QwwepGGs1zeaEAcLagsudTforrbxBJwGH9rK6RylH_02r8fFg0b7ZJ9M_6Pi24f3X08_zc4vPp6dLs5nhkk8zERdsQYSxigUCNZ1o3PeFiNqiKmIRrbWTLBaIsgQrRmnlhMjKmYQrAjRmhwVz3d-ex-SmuqbFOaCcMwlKjNxtiPqoK9UH12r41oF7dT2IMSl0nFwxltVEyGRLXlDG1s2BldY56pDqikvqWQs-3o7RRur1tbG5gJpv-d0_6ZzK7UMP5WUgovc1KPi5eQghh-jTYNqXTLWe93ZME55S4wkz-jxP-jdr5uopc4PcF0TclyzcaoWnEguSo5lpuZ3UPmrbetym23j8vme4NWeYDMK9vew1GNK6uzyy_-zF9_32Re32JXVflil4MfNyKR9sNyBJo9kira5KTKCarNL19VQm11S0y5l2bPbDboRXS8P-Qsgdxb9</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2783727914</pqid></control><display><type>article</type><title>Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population</title><source>MEDLINE</source><source>DOAJ Directory of Open Access Journals</source><source>Public Library of Science (PLoS) Journals Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Free Full-Text Journals in Chemistry</source><creator>Bustos, Mónica Alexandra ; Castañeda-Castañeda, Luz Dary ; Acosta, Carmen Rosa ; García, Diana ; Bohada, Diana Patricia ; Rodríguez, Raúl ; Guerrero, Martha Inírida</creator><contributor>Boon-Peng, Hoh</contributor><creatorcontrib>Bustos, Mónica Alexandra ; Castañeda-Castañeda, Luz Dary ; Acosta, Carmen Rosa ; García, Diana ; Bohada, Diana Patricia ; Rodríguez, Raúl ; Guerrero, Martha Inírida ; Boon-Peng, Hoh</creatorcontrib><description>Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host's immune response, environmental factors, and the genetic background of the host. Specifically, the host's innate immune response, encoded by genes, determines their susceptibility to developing leprosy post-infection. Polymorphic variants in the nucleotide-binding oligomerization domain 2 (NOD2) gene are associated with leprosy among populations in a variety of endemic areas around the world. Colombia, a country located in the tropical zone, has several leprosy-endemic regions, including Norte de Santander. The aim of this study was to analyze the rs7194886, rs2111234, rs3135499, and rs8057341 single nucleotide polymorphisms (SNPs) in the NOD2 gene using a case-control study to determine whether they confer greater or lesser susceptibility to the development of leprosy.
The TaqMan qPCR amplification system was used for SNPs detection.
An association between the A-rs8057341 SNP (p = 0,006286) and resistance to leprosy was found. However, the rs3135499 (p = 0,9063) and rs2111234 (p = 0.1492) were not found to be associated with leprosy susceptibility. In addition, the rs7194886 SNP was not found to be in Hardy-Weinberg equilibrium (HWE) in the study population. The GAG haplotype, consisting of SNPs rs2111234-G, rs3135499-A, and rs8057341G, acts as a susceptibility factor for the development of leprosy in women. SNPs rs3135499 and rs8057341 are functionally related to decreased NOD2 expression according to an in-silico analysis.
The SNPs rs8057341-A was related with resistance to leprosy and the haplotype rs2111234-G, rs3135499-A and rs8057341-G SNPs was related with susceptibility in the Norte de Santander Colombia, studied population.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0281553</identifier><identifier>PMID: 36877680</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Age ; Analysis ; Biology and Life Sciences ; Case-Control Studies ; Colombia - epidemiology ; Data collection ; Development and progression ; Disease ; Disease susceptibility ; DNA testing ; Environmental factors ; Ethics ; Female ; Genetic aspects ; Genetic polymorphisms ; Genomes ; Haplotypes ; Health aspects ; Health care ; Humans ; Immune response ; Immune system ; Infectious diseases ; Informed consent ; Innate immunity ; Kinases ; Leprosy ; Leprosy - genetics ; Medicine and Health Sciences ; Mycobacterium leprae ; NOD2 protein ; Nod2 Signaling Adaptor Protein - genetics ; Nucleotides ; Oligomerization ; Patients ; People and places ; Polymorphism, Single Nucleotide ; Population studies ; Proteins ; Research and Analysis Methods ; Signal transduction ; Single-nucleotide polymorphism ; Susceptibility</subject><ispartof>PloS one, 2023-03, Vol.18 (3), p.e0281553-e0281553</ispartof><rights>Copyright: © 2023 Bustos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</rights><rights>COPYRIGHT 2023 Public Library of Science</rights><rights>2023 Bustos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2023 Bustos et al 2023 Bustos et al</rights><rights>2023 Bustos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-8db6f036650810ddfa499e215c3cb3a1eda686d910615d675e73c8b6c10b33aa3</citedby><cites>FETCH-LOGICAL-c692t-8db6f036650810ddfa499e215c3cb3a1eda686d910615d675e73c8b6c10b33aa3</cites><orcidid>0000-0001-6193-7807 ; 0000-0002-6155-3771</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987820/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987820/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36877680$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Boon-Peng, Hoh</contributor><creatorcontrib>Bustos, Mónica Alexandra</creatorcontrib><creatorcontrib>Castañeda-Castañeda, Luz Dary</creatorcontrib><creatorcontrib>Acosta, Carmen Rosa</creatorcontrib><creatorcontrib>García, Diana</creatorcontrib><creatorcontrib>Bohada, Diana Patricia</creatorcontrib><creatorcontrib>Rodríguez, Raúl</creatorcontrib><creatorcontrib>Guerrero, Martha Inírida</creatorcontrib><title>Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host's immune response, environmental factors, and the genetic background of the host. Specifically, the host's innate immune response, encoded by genes, determines their susceptibility to developing leprosy post-infection. Polymorphic variants in the nucleotide-binding oligomerization domain 2 (NOD2) gene are associated with leprosy among populations in a variety of endemic areas around the world. Colombia, a country located in the tropical zone, has several leprosy-endemic regions, including Norte de Santander. The aim of this study was to analyze the rs7194886, rs2111234, rs3135499, and rs8057341 single nucleotide polymorphisms (SNPs) in the NOD2 gene using a case-control study to determine whether they confer greater or lesser susceptibility to the development of leprosy.
The TaqMan qPCR amplification system was used for SNPs detection.
An association between the A-rs8057341 SNP (p = 0,006286) and resistance to leprosy was found. However, the rs3135499 (p = 0,9063) and rs2111234 (p = 0.1492) were not found to be associated with leprosy susceptibility. In addition, the rs7194886 SNP was not found to be in Hardy-Weinberg equilibrium (HWE) in the study population. The GAG haplotype, consisting of SNPs rs2111234-G, rs3135499-A, and rs8057341G, acts as a susceptibility factor for the development of leprosy in women. SNPs rs3135499 and rs8057341 are functionally related to decreased NOD2 expression according to an in-silico analysis.
The SNPs rs8057341-A was related with resistance to leprosy and the haplotype rs2111234-G, rs3135499-A and rs8057341-G SNPs was related with susceptibility in the Norte de Santander Colombia, studied population.</description><subject>Age</subject><subject>Analysis</subject><subject>Biology and Life Sciences</subject><subject>Case-Control Studies</subject><subject>Colombia - epidemiology</subject><subject>Data collection</subject><subject>Development and progression</subject><subject>Disease</subject><subject>Disease susceptibility</subject><subject>DNA testing</subject><subject>Environmental factors</subject><subject>Ethics</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic polymorphisms</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Health aspects</subject><subject>Health care</subject><subject>Humans</subject><subject>Immune response</subject><subject>Immune system</subject><subject>Infectious diseases</subject><subject>Informed consent</subject><subject>Innate immunity</subject><subject>Kinases</subject><subject>Leprosy</subject><subject>Leprosy - genetics</subject><subject>Medicine and Health Sciences</subject><subject>Mycobacterium leprae</subject><subject>NOD2 protein</subject><subject>Nod2 Signaling Adaptor Protein - genetics</subject><subject>Nucleotides</subject><subject>Oligomerization</subject><subject>Patients</subject><subject>People and places</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population studies</subject><subject>Proteins</subject><subject>Research and Analysis Methods</subject><subject>Signal transduction</subject><subject>Single-nucleotide polymorphism</subject><subject>Susceptibility</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1trFDEUxwdRbK1-A9FAQRS6ay6Tmw_CUm-FYsGqryGTyeymZCZjMqPu5_GLmt2dlq70QeZhDsnvf87JuRTFUwTniHD0-iqMsdN-3ofOziEWiFJyrzhEkuAZw5Dcv2UfFI9SuoKQEsHYw-KAMME5E_Cw-LNIKRinBxc6EBowrCyICSOEMClPskkQoaWUG1NAykmJQB_8ug2xX7nUJuC6rejzxTsMlraz4JcbVsDbPoa0fgMWwOhkZyZ0QwwepGGs1zeaEAcLagsudTforrbxBJwGH9rK6RylH_02r8fFg0b7ZJ9M_6Pi24f3X08_zc4vPp6dLs5nhkk8zERdsQYSxigUCNZ1o3PeFiNqiKmIRrbWTLBaIsgQrRmnlhMjKmYQrAjRmhwVz3d-ex-SmuqbFOaCcMwlKjNxtiPqoK9UH12r41oF7dT2IMSl0nFwxltVEyGRLXlDG1s2BldY56pDqikvqWQs-3o7RRur1tbG5gJpv-d0_6ZzK7UMP5WUgovc1KPi5eQghh-jTYNqXTLWe93ZME55S4wkz-jxP-jdr5uopc4PcF0TclyzcaoWnEguSo5lpuZ3UPmrbetym23j8vme4NWeYDMK9vew1GNK6uzyy_-zF9_32Re32JXVflil4MfNyKR9sNyBJo9kira5KTKCarNL19VQm11S0y5l2bPbDboRXS8P-Qsgdxb9</recordid><startdate>20230306</startdate><enddate>20230306</enddate><creator>Bustos, Mónica Alexandra</creator><creator>Castañeda-Castañeda, Luz Dary</creator><creator>Acosta, Carmen Rosa</creator><creator>García, Diana</creator><creator>Bohada, Diana Patricia</creator><creator>Rodríguez, Raúl</creator><creator>Guerrero, Martha Inírida</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-6193-7807</orcidid><orcidid>https://orcid.org/0000-0002-6155-3771</orcidid></search><sort><creationdate>20230306</creationdate><title>Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population</title><author>Bustos, Mónica Alexandra ; Castañeda-Castañeda, Luz Dary ; Acosta, Carmen Rosa ; García, Diana ; Bohada, Diana Patricia ; Rodríguez, Raúl ; Guerrero, Martha Inírida</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-8db6f036650810ddfa499e215c3cb3a1eda686d910615d675e73c8b6c10b33aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Age</topic><topic>Analysis</topic><topic>Biology and Life Sciences</topic><topic>Case-Control Studies</topic><topic>Colombia - epidemiology</topic><topic>Data collection</topic><topic>Development and progression</topic><topic>Disease</topic><topic>Disease susceptibility</topic><topic>DNA testing</topic><topic>Environmental factors</topic><topic>Ethics</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic polymorphisms</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Health aspects</topic><topic>Health care</topic><topic>Humans</topic><topic>Immune response</topic><topic>Immune system</topic><topic>Infectious diseases</topic><topic>Informed consent</topic><topic>Innate immunity</topic><topic>Kinases</topic><topic>Leprosy</topic><topic>Leprosy - genetics</topic><topic>Medicine and Health Sciences</topic><topic>Mycobacterium leprae</topic><topic>NOD2 protein</topic><topic>Nod2 Signaling Adaptor Protein - genetics</topic><topic>Nucleotides</topic><topic>Oligomerization</topic><topic>Patients</topic><topic>People and places</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population studies</topic><topic>Proteins</topic><topic>Research and Analysis Methods</topic><topic>Signal transduction</topic><topic>Single-nucleotide polymorphism</topic><topic>Susceptibility</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bustos, Mónica Alexandra</creatorcontrib><creatorcontrib>Castañeda-Castañeda, Luz Dary</creatorcontrib><creatorcontrib>Acosta, Carmen Rosa</creatorcontrib><creatorcontrib>García, Diana</creatorcontrib><creatorcontrib>Bohada, Diana Patricia</creatorcontrib><creatorcontrib>Rodríguez, Raúl</creatorcontrib><creatorcontrib>Guerrero, Martha Inírida</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bustos, Mónica Alexandra</au><au>Castañeda-Castañeda, Luz Dary</au><au>Acosta, Carmen Rosa</au><au>García, Diana</au><au>Bohada, Diana Patricia</au><au>Rodríguez, Raúl</au><au>Guerrero, Martha Inírida</au><au>Boon-Peng, Hoh</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2023-03-06</date><risdate>2023</risdate><volume>18</volume><issue>3</issue><spage>e0281553</spage><epage>e0281553</epage><pages>e0281553-e0281553</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host's immune response, environmental factors, and the genetic background of the host. Specifically, the host's innate immune response, encoded by genes, determines their susceptibility to developing leprosy post-infection. Polymorphic variants in the nucleotide-binding oligomerization domain 2 (NOD2) gene are associated with leprosy among populations in a variety of endemic areas around the world. Colombia, a country located in the tropical zone, has several leprosy-endemic regions, including Norte de Santander. The aim of this study was to analyze the rs7194886, rs2111234, rs3135499, and rs8057341 single nucleotide polymorphisms (SNPs) in the NOD2 gene using a case-control study to determine whether they confer greater or lesser susceptibility to the development of leprosy.
The TaqMan qPCR amplification system was used for SNPs detection.
An association between the A-rs8057341 SNP (p = 0,006286) and resistance to leprosy was found. However, the rs3135499 (p = 0,9063) and rs2111234 (p = 0.1492) were not found to be associated with leprosy susceptibility. In addition, the rs7194886 SNP was not found to be in Hardy-Weinberg equilibrium (HWE) in the study population. The GAG haplotype, consisting of SNPs rs2111234-G, rs3135499-A, and rs8057341G, acts as a susceptibility factor for the development of leprosy in women. SNPs rs3135499 and rs8057341 are functionally related to decreased NOD2 expression according to an in-silico analysis.
The SNPs rs8057341-A was related with resistance to leprosy and the haplotype rs2111234-G, rs3135499-A and rs8057341-G SNPs was related with susceptibility in the Norte de Santander Colombia, studied population.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>36877680</pmid><doi>10.1371/journal.pone.0281553</doi><tpages>e0281553</tpages><orcidid>https://orcid.org/0000-0001-6193-7807</orcidid><orcidid>https://orcid.org/0000-0002-6155-3771</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2023-03, Vol.18 (3), p.e0281553-e0281553 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2783727914 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Age Analysis Biology and Life Sciences Case-Control Studies Colombia - epidemiology Data collection Development and progression Disease Disease susceptibility DNA testing Environmental factors Ethics Female Genetic aspects Genetic polymorphisms Genomes Haplotypes Health aspects Health care Humans Immune response Immune system Infectious diseases Informed consent Innate immunity Kinases Leprosy Leprosy - genetics Medicine and Health Sciences Mycobacterium leprae NOD2 protein Nod2 Signaling Adaptor Protein - genetics Nucleotides Oligomerization Patients People and places Polymorphism, Single Nucleotide Population studies Proteins Research and Analysis Methods Signal transduction Single-nucleotide polymorphism Susceptibility |
| title | Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-23T19%3A19%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Association%20of%20the%20rs2111234,%20rs3135499,%20rs8057341%20polymorphisms%20in%20the%20NOD2%20gene%20with%20leprosy:%20A%20case-control%20study%20in%20the%20Norte%20de%20Santander,%20Colombia%20population&rft.jtitle=PloS%20one&rft.au=Bustos,%20M%C3%B3nica%20Alexandra&rft.date=2023-03-06&rft.volume=18&rft.issue=3&rft.spage=e0281553&rft.epage=e0281553&rft.pages=e0281553-e0281553&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0281553&rft_dat=%3Cgale_plos_%3EA739784729%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2783727914&rft_id=info:pmid/36877680&rft_galeid=A739784729&rft_doaj_id=oai_doaj_org_article_d3891e47f5fe4fc2b2a36805a5745966&rfr_iscdi=true |