Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations
Introduction: Patients with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean fever (MEFV) mutations comparing general population. To our knowledge, there is no report in this regard among Azeri Turkish children. In this study, we evaluated the prevalence of MEFV mutations and their c...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Tabriz University of Medical Sciences
2015-06-01
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| Series: | Journal of Analytical Research in Clinical Medicine |
| Subjects: | |
| Online Access: | http://journals.tbzmed.ac.ir/JARCM/Manuscript/JARCM-3-112.pdf |
| _version_ | 1818540917364097024 |
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| author | Mandana Rafeey Morteza Jabbarpour-Bonyadi Behzad Aliyari Mahnaz Sadeghi-Shabestari Fakhrossadat Mortazavi |
| author_facet | Mandana Rafeey Morteza Jabbarpour-Bonyadi Behzad Aliyari Mahnaz Sadeghi-Shabestari Fakhrossadat Mortazavi |
| author_sort | Mandana Rafeey |
| collection | DOAJ |
| description | Introduction: Patients
with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean
fever (MEFV) mutations comparing general population. To our knowledge, there is
no report in this regard among Azeri Turkish children. In this study, we
evaluated the prevalence of MEFV mutations and their clinical and laboratory
correlations in Azeri Turkish children with HSP.
Methods: In this case-control study, we included 40
unrelated patients from Azeri Turk origin diagnosed with HSP between January
2010 and March 2011. The control group consisted of 100 healthy unrelated
subjects. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral
blood leukocytes using standard protocols. Each sample was initially analyzed
for the five common mutations (M694V, M694I, M680I, V726A and E148Q).
Results: From 40 patients with HSP, 10 patients (25.0%) had
one MEFV mutation. Both patient groups (with and without mutation) were similar
regarding clinical manifestations and age at the onset of disease. Frequency of
female gender was higher in patients with the mutation. MEFV mutations were
found in 26.0% of control group among them 19.2% had V726A and 80.8% had E148Q
mutation. There was no significant difference in total mutations between
patients and controls. Frequency of M680I mutation was significantly higher in
HSP patients than controls (P = 0.020). E148Q mutation was much higher in the
control group than HSP patients, but the difference was not statistically
significant (P = 0.053).
Conclusion: There was no difference in the clinical spectrum
of patients with and without MEFV mutation. M680I mutation may have a probable
predisposing role for HSP. |
| first_indexed | 2024-12-11T22:01:41Z |
| format | Article |
| id | doaj.art-6106a5b71f5042f9886a1e3f2edf9251 |
| institution | Directory Open Access Journal |
| issn | 2345-4970 |
| language | English |
| last_indexed | 2024-12-11T22:01:41Z |
| publishDate | 2015-06-01 |
| publisher | Tabriz University of Medical Sciences |
| record_format | Article |
| series | Journal of Analytical Research in Clinical Medicine |
| spelling | doaj.art-6106a5b71f5042f9886a1e3f2edf92512022-12-22T00:49:05ZengTabriz University of Medical SciencesJournal of Analytical Research in Clinical Medicine2345-49702015-06-013211211710.15171/jarcm.2015.017JARCM_2239_20140916102408Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutationsMandana Rafeey0Morteza Jabbarpour-Bonyadi1Behzad Aliyari2Mahnaz Sadeghi-Shabestari3Fakhrossadat Mortazavi4Professor, Liver and Gastrointestinal Research Center, Tabriz University of Medical Sciences, Tabriz, IranAssociate Professor, Center of Excellence for Biodiversity, School of Natural Sciences, University of Tabriz, Tabriz, IranResident, Children Health Research Center, Tabriz University of Medical Sciences, Tabriz, IranAssociate Professor, Children Health Research Center, Tabriz University of Medical Sciences, Tabriz, IranProfessor, Liver and Gastrointestinal Research Center, Tabriz University of Medical Sciences, Tabriz, IranIntroduction: Patients with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean fever (MEFV) mutations comparing general population. To our knowledge, there is no report in this regard among Azeri Turkish children. In this study, we evaluated the prevalence of MEFV mutations and their clinical and laboratory correlations in Azeri Turkish children with HSP. Methods: In this case-control study, we included 40 unrelated patients from Azeri Turk origin diagnosed with HSP between January 2010 and March 2011. The control group consisted of 100 healthy unrelated subjects. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood leukocytes using standard protocols. Each sample was initially analyzed for the five common mutations (M694V, M694I, M680I, V726A and E148Q). Results: From 40 patients with HSP, 10 patients (25.0%) had one MEFV mutation. Both patient groups (with and without mutation) were similar regarding clinical manifestations and age at the onset of disease. Frequency of female gender was higher in patients with the mutation. MEFV mutations were found in 26.0% of control group among them 19.2% had V726A and 80.8% had E148Q mutation. There was no significant difference in total mutations between patients and controls. Frequency of M680I mutation was significantly higher in HSP patients than controls (P = 0.020). E148Q mutation was much higher in the control group than HSP patients, but the difference was not statistically significant (P = 0.053). Conclusion: There was no difference in the clinical spectrum of patients with and without MEFV mutation. M680I mutation may have a probable predisposing role for HSP.http://journals.tbzmed.ac.ir/JARCM/Manuscript/JARCM-3-112.pdfHenoch-Shonlein PurpuraMEFV MutationM680IE148Q |
| spellingShingle | Mandana Rafeey Morteza Jabbarpour-Bonyadi Behzad Aliyari Mahnaz Sadeghi-Shabestari Fakhrossadat Mortazavi Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations Journal of Analytical Research in Clinical Medicine Henoch-Shonlein Purpura MEFV Mutation M680I E148Q |
| title | Prevalence of the MEFV gene
mutations and their clinical correlations in Azeri Turkish patients with
childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations |
| title_full | Prevalence of the MEFV gene
mutations and their clinical correlations in Azeri Turkish patients with
childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations |
| title_fullStr | Prevalence of the MEFV gene
mutations and their clinical correlations in Azeri Turkish patients with
childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations |
| title_full_unstemmed | Prevalence of the MEFV gene
mutations and their clinical correlations in Azeri Turkish patients with
childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations |
| title_short | Prevalence of the MEFV gene
mutations and their clinical correlations in Azeri Turkish patients with
childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations |
| title_sort | prevalence of the mefv gene mutations and their clinical correlations in azeri turkish patients with childhood henoch schonlein purpura the role of m680i and e148q mutations |
| topic | Henoch-Shonlein Purpura MEFV Mutation M680I E148Q |
| url | http://journals.tbzmed.ac.ir/JARCM/Manuscript/JARCM-3-112.pdf |
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