MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study
Abstract Background Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. RF is most prevalent in Africa and the Middle East. Rheumatic heart disease (RHD) is the most serious complication of RF. Mannose-binding lectin 2 gene (MB...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-04-01
|
| Series: | Pediatric Rheumatology Online Journal |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12969-018-0245-x |
| _version_ | 1818565917236264960 |
|---|---|
| author | Maher Hassan Gomaa Shawkey Sadik Ali Aya Mohamed Fattouh Hala Salah Hamza Mohamed Mohamed Badr |
| author_facet | Maher Hassan Gomaa Shawkey Sadik Ali Aya Mohamed Fattouh Hala Salah Hamza Mohamed Mohamed Badr |
| author_sort | Maher Hassan Gomaa |
| collection | DOAJ |
| description | Abstract Background Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. RF is most prevalent in Africa and the Middle East. Rheumatic heart disease (RHD) is the most serious complication of RF. Mannose-binding lectin 2 gene (MBL2) has been reported to be correlated with different cardiac conditions. In Egyptian patients as a new studied ethnic population, it is the first time to evaluate the association between MBL2 gene polymorphism rs1800450 and RF with and without RHD. Methods One hundred and sixty RF patients (80 with RHD and 80 without RHD) and eighty healthy ethnically matched controls were studied. MBL2 (rs1800450) was genotyped by real-time PCR using TaqMan® allele discrimination assay. The MBL level was measured by ELISA. Westergren erythrocytes sedimentation rate (ESR), anti-streptolysin O titer (ASOT), C-reactive protein (CRP) and complements (C3 and C4) were determined. Results The AA genotype with high production of MBL was associated with increased risk of RHD more than the B allele carrying subjects. However, MBL2 genotype related to the low production of MBL was more frequently observed in those patients without RHD. Conclusions Our results suggested the involvement of MBL2 (rs1800450) polymorphism and its protein in RHD pathogenesis. Also, it might be a promising future strategy to utilize this polymorphism to help differentiate patients with RHD from those without RHD. |
| first_indexed | 2024-12-14T01:47:00Z |
| format | Article |
| id | doaj.art-4de6f6c1658c430880119a9d848c1e6f |
| institution | Directory Open Access Journal |
| issn | 1546-0096 |
| language | English |
| last_indexed | 2024-12-14T01:47:00Z |
| publishDate | 2018-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj.art-4de6f6c1658c430880119a9d848c1e6f2022-12-21T23:21:32ZengBMCPediatric Rheumatology Online Journal1546-00962018-04-011611710.1186/s12969-018-0245-xMBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot studyMaher Hassan Gomaa0Shawkey Sadik Ali1Aya Mohamed Fattouh2Hala Salah Hamza3Mohamed Mohamed Badr4Biochemistry Department-Faculty of Pharmacy (Boys), Al-Azhar UniversityBiochemistry Department-Faculty of Pharmacy (Boys), Al-Azhar UniversityDepartment of Pediatrics, Kasr Al-Aini School of Medicine, Cairo UniversityDepartment of Pediatrics, Kasr Al-Aini School of Medicine, Cairo UniversityBiochemistry Department-Faculty of Pharmacy (Boys), Al-Azhar UniversityAbstract Background Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. RF is most prevalent in Africa and the Middle East. Rheumatic heart disease (RHD) is the most serious complication of RF. Mannose-binding lectin 2 gene (MBL2) has been reported to be correlated with different cardiac conditions. In Egyptian patients as a new studied ethnic population, it is the first time to evaluate the association between MBL2 gene polymorphism rs1800450 and RF with and without RHD. Methods One hundred and sixty RF patients (80 with RHD and 80 without RHD) and eighty healthy ethnically matched controls were studied. MBL2 (rs1800450) was genotyped by real-time PCR using TaqMan® allele discrimination assay. The MBL level was measured by ELISA. Westergren erythrocytes sedimentation rate (ESR), anti-streptolysin O titer (ASOT), C-reactive protein (CRP) and complements (C3 and C4) were determined. Results The AA genotype with high production of MBL was associated with increased risk of RHD more than the B allele carrying subjects. However, MBL2 genotype related to the low production of MBL was more frequently observed in those patients without RHD. Conclusions Our results suggested the involvement of MBL2 (rs1800450) polymorphism and its protein in RHD pathogenesis. Also, it might be a promising future strategy to utilize this polymorphism to help differentiate patients with RHD from those without RHD.http://link.springer.com/article/10.1186/s12969-018-0245-xRheumatic feverRheumatic heart diseaseMBL2 gene polymorphism |
| spellingShingle | Maher Hassan Gomaa Shawkey Sadik Ali Aya Mohamed Fattouh Hala Salah Hamza Mohamed Mohamed Badr MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study Pediatric Rheumatology Online Journal Rheumatic fever Rheumatic heart disease MBL2 gene polymorphism |
| title | MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study |
| title_full | MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study |
| title_fullStr | MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study |
| title_full_unstemmed | MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study |
| title_short | MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study |
| title_sort | mbl2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease an egyptian pilot study |
| topic | Rheumatic fever Rheumatic heart disease MBL2 gene polymorphism |
| url | http://link.springer.com/article/10.1186/s12969-018-0245-x |
| work_keys_str_mv | AT maherhassangomaa mbl2genepolymorphismrs1800450andrheumaticfeverwithandwithoutrheumaticheartdiseaseanegyptianpilotstudy AT shawkeysadikali mbl2genepolymorphismrs1800450andrheumaticfeverwithandwithoutrheumaticheartdiseaseanegyptianpilotstudy AT ayamohamedfattouh mbl2genepolymorphismrs1800450andrheumaticfeverwithandwithoutrheumaticheartdiseaseanegyptianpilotstudy AT halasalahhamza mbl2genepolymorphismrs1800450andrheumaticfeverwithandwithoutrheumaticheartdiseaseanegyptianpilotstudy AT mohamedmohamedbadr mbl2genepolymorphismrs1800450andrheumaticfeverwithandwithoutrheumaticheartdiseaseanegyptianpilotstudy |