A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study.
BACKGROUND:Madurella mycetomatis is the most prevalent causative agent of eumycetoma in Sudan, an infection characterized by the formation of grains. Many patients are exposed to the causative agent, however only a small number develop infection. M. mycetomatis contains chitin in its cell wall, whic...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-01-01
|
| Series: | PLoS Neglected Tropical Diseases |
| Online Access: | http://europepmc.org/articles/PMC4558086?pdf=render |
| _version_ | 1818120242867470336 |
|---|---|
| author | Patricia E B Verwer Charlotte C Notenboom Kimberly Eadie Ahmed H Fahal Henri A Verbrugh Wendy W J van de Sande |
| author_facet | Patricia E B Verwer Charlotte C Notenboom Kimberly Eadie Ahmed H Fahal Henri A Verbrugh Wendy W J van de Sande |
| author_sort | Patricia E B Verwer |
| collection | DOAJ |
| description | BACKGROUND:Madurella mycetomatis is the most prevalent causative agent of eumycetoma in Sudan, an infection characterized by the formation of grains. Many patients are exposed to the causative agent, however only a small number develop infection. M. mycetomatis contains chitin in its cell wall, which can trigger the human immune system. Polymorphisms in the genes encoding for the chitin-degrading enzymes chitotriosidase and AMCase were described, resulting in altered chitinase activity. We investigated the association between 4 of these polymorphisms and the incidence of M. mycetomatis mycetoma in a Sudanese population. METHODOLOGY:Polymorphisms studied in 112 eumycetoma patients and 103 matched controls included a 24-bp insertion in the chitotriosidase gene (rs3831317), resulting in impaired chitinase activity and single nucleotide polymorphism (SNP) in the AMCase gene (rs61756687), resulting in decreased AMCase activity. Also, a SNP (rs41282492) and a 10-bp insertion in the 5'UTR region of the AMCase gene (rs143789088) were studied, both resulting in increased AMCase activity. DNA was isolated from blood and genotypes were determined using PCR-RFLP. PRINCIPAL FINDINGS:Histological staining proved the presence of chitin in the fungal grain. The polymorphism resulting in decreased chitotriosidase activity was associated with increased odds of eumycetoma (odds ratio 2.9; p = 0.004). No association was found for the polymorphisms in the genes for AMCase (all p>0.05). CONCLUSION:Decreased chitotriosidase activity was associated with increased risk of M. mycetomatis mycetoma. |
| first_indexed | 2024-12-11T05:22:59Z |
| format | Article |
| id | doaj.art-17df6f8e384b4c4fabe1f23987fa057e |
| institution | Directory Open Access Journal |
| issn | 1935-2727 1935-2735 |
| language | English |
| last_indexed | 2024-12-11T05:22:59Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Neglected Tropical Diseases |
| spelling | doaj.art-17df6f8e384b4c4fabe1f23987fa057e2022-12-22T01:19:38ZengPublic Library of Science (PLoS)PLoS Neglected Tropical Diseases1935-27271935-27352015-01-0199e000406110.1371/journal.pntd.0004061A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study.Patricia E B VerwerCharlotte C NotenboomKimberly EadieAhmed H FahalHenri A VerbrughWendy W J van de SandeBACKGROUND:Madurella mycetomatis is the most prevalent causative agent of eumycetoma in Sudan, an infection characterized by the formation of grains. Many patients are exposed to the causative agent, however only a small number develop infection. M. mycetomatis contains chitin in its cell wall, which can trigger the human immune system. Polymorphisms in the genes encoding for the chitin-degrading enzymes chitotriosidase and AMCase were described, resulting in altered chitinase activity. We investigated the association between 4 of these polymorphisms and the incidence of M. mycetomatis mycetoma in a Sudanese population. METHODOLOGY:Polymorphisms studied in 112 eumycetoma patients and 103 matched controls included a 24-bp insertion in the chitotriosidase gene (rs3831317), resulting in impaired chitinase activity and single nucleotide polymorphism (SNP) in the AMCase gene (rs61756687), resulting in decreased AMCase activity. Also, a SNP (rs41282492) and a 10-bp insertion in the 5'UTR region of the AMCase gene (rs143789088) were studied, both resulting in increased AMCase activity. DNA was isolated from blood and genotypes were determined using PCR-RFLP. PRINCIPAL FINDINGS:Histological staining proved the presence of chitin in the fungal grain. The polymorphism resulting in decreased chitotriosidase activity was associated with increased odds of eumycetoma (odds ratio 2.9; p = 0.004). No association was found for the polymorphisms in the genes for AMCase (all p>0.05). CONCLUSION:Decreased chitotriosidase activity was associated with increased risk of M. mycetomatis mycetoma.http://europepmc.org/articles/PMC4558086?pdf=render |
| spellingShingle | Patricia E B Verwer Charlotte C Notenboom Kimberly Eadie Ahmed H Fahal Henri A Verbrugh Wendy W J van de Sande A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. PLoS Neglected Tropical Diseases |
| title | A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. |
| title_full | A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. |
| title_fullStr | A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. |
| title_full_unstemmed | A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. |
| title_short | A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study. |
| title_sort | polymorphism in the chitotriosidase gene associated with risk of mycetoma due to madurella mycetomatis mycetoma a retrospective study |
| url | http://europepmc.org/articles/PMC4558086?pdf=render |
| work_keys_str_mv | AT patriciaebverwer apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT charlottecnotenboom apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT kimberlyeadie apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT ahmedhfahal apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT henriaverbrugh apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT wendywjvandesande apolymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT patriciaebverwer polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT charlottecnotenboom polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT kimberlyeadie polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT ahmedhfahal polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT henriaverbrugh polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy AT wendywjvandesande polymorphisminthechitotriosidasegeneassociatedwithriskofmycetomaduetomadurellamycetomatismycetomaaretrospectivestudy |