Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis
Background: Systemic lupus erythematosus (SLE) is a complex trait characterized by the production of a range of autoantibodies and a diverse set of clinical phenotypes, including skin rash, neuropsychiatric and musculoskeletal symptoms, and lupus nephritis (LN). Mannan-binding lectin (MBL) is a reco...
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Discover STM Publishing Ltd
2021-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=302645318 |
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| author | Osama Sayed Daif Allah Alshimaa Hafez Abdelall Madeha Mahrous Zakhary Nagwa S. Ahmed Asmaa Mohamed Goda |
| author_facet | Osama Sayed Daif Allah Alshimaa Hafez Abdelall Madeha Mahrous Zakhary Nagwa S. Ahmed Asmaa Mohamed Goda |
| author_sort | Osama Sayed Daif Allah |
| collection | DOAJ |
| description | Background: Systemic lupus erythematosus (SLE) is a complex trait characterized by the production of a range of autoantibodies and a diverse set of clinical phenotypes, including skin rash, neuropsychiatric and musculoskeletal symptoms, and lupus nephritis (LN). Mannan-binding lectin (MBL) is a recognition molecule of the lectin pathway of complement activation. We investigated MBL gene polymorphism at exon 1 codon 54 as a potential biomarker for SLE nephritis in the current study.
Methodology: A casecontrol study screened 70 participants. They were included in the study from the outpatient clinic or the inpatient section of the Rheumatology Department at Sohag University Hospital during July 2017-June 2019 for MBL gene polymorphism at exon 1 codon 54, which was detected by polymerase chain reaction using sequence-specific priming.
Result: There was a predominance of AA (wild) genotype in the control group (40%). Patient groups had a statistically significant equal higher frequency of heterozygous polymorphism (AB) (76%) than the controls. BB genotype showed a statistically significant lowest frequency in the LN group (p-value = 0.04).
Conclusions: MBL AB genotyping was more frequent in SLE patients either with or without nephritis than in the normal Egyptian population. BB genotyping was less frequent in LN patients than in patients without nephritis. The present study supports that the carriage of MBL AB genotype (heterozygous polymorphism at codon 54) was associated with both SLE and LN development in normal Egyptians. [JBCGenetics 2021; 4(1.000): 14-21] |
| first_indexed | 2024-03-13T08:41:26Z |
| format | Article |
| id | doaj.art-c44b6c67ee1e40de8ba2084092a1c54c |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:26Z |
| publishDate | 2021-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-c44b6c67ee1e40de8ba2084092a1c54c2023-05-30T11:50:19ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2021-06-0141142110.24911/JBCGenetics/183-1598435875302645318Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritisOsama Sayed Daif Allah0Alshimaa Hafez Abdelall1Madeha Mahrous Zakhary2Nagwa S. Ahmed3Asmaa Mohamed Goda4Physical Medicine, Rheumatology and Rehabilitation, Department, Faculty of Medicine, Sohag University, Egypt Medical Biochemistry Department. Faculty of Medicine, Sohag University, Egypt Medical Biochemistry Department. Faculty of Medicine, Assuit University, Egypt Medical Biochemistry Department. Faculty of Medicine, Sohag University, Egypt Medical Microbiology and Immunology Department, Faculty of Medicine, Sohag University, EgyptBackground: Systemic lupus erythematosus (SLE) is a complex trait characterized by the production of a range of autoantibodies and a diverse set of clinical phenotypes, including skin rash, neuropsychiatric and musculoskeletal symptoms, and lupus nephritis (LN). Mannan-binding lectin (MBL) is a recognition molecule of the lectin pathway of complement activation. We investigated MBL gene polymorphism at exon 1 codon 54 as a potential biomarker for SLE nephritis in the current study. Methodology: A casecontrol study screened 70 participants. They were included in the study from the outpatient clinic or the inpatient section of the Rheumatology Department at Sohag University Hospital during July 2017-June 2019 for MBL gene polymorphism at exon 1 codon 54, which was detected by polymerase chain reaction using sequence-specific priming. Result: There was a predominance of AA (wild) genotype in the control group (40%). Patient groups had a statistically significant equal higher frequency of heterozygous polymorphism (AB) (76%) than the controls. BB genotype showed a statistically significant lowest frequency in the LN group (p-value = 0.04). Conclusions: MBL AB genotyping was more frequent in SLE patients either with or without nephritis than in the normal Egyptian population. BB genotyping was less frequent in LN patients than in patients without nephritis. The present study supports that the carriage of MBL AB genotype (heterozygous polymorphism at codon 54) was associated with both SLE and LN development in normal Egyptians. [JBCGenetics 2021; 4(1.000): 14-21]http://www.ejmanager.com/fulltextpdf.php?mno=302645318mannose-binding lectin (mbl)systemic lupus erythematosus (sle)lupus nephritis (ln)gene polymorphism |
| spellingShingle | Osama Sayed Daif Allah Alshimaa Hafez Abdelall Madeha Mahrous Zakhary Nagwa S. Ahmed Asmaa Mohamed Goda Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis Journal of Biochemical and Clinical Genetics mannose-binding lectin (mbl) systemic lupus erythematosus (sle) lupus nephritis (ln) gene polymorphism |
| title | Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| title_full | Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| title_fullStr | Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| title_full_unstemmed | Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| title_short | Mannose-binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| title_sort | mannose binding lectin gene polymorphism in systemic lupus erythematosus nephritis |
| topic | mannose-binding lectin (mbl) systemic lupus erythematosus (sle) lupus nephritis (ln) gene polymorphism |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=302645318 |
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