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Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy

INTRODUCTION: The auto-inflammatory diseases (AID) are a heterogeneous group of multi-system disorders of innate immunity dysregulation. MEFV gene has major role in AID. AIM: The aim of this study is to investigate the frequency of MEFV variant alleles in gout patients as an AID and their genotype-p...

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Autores principales: Salehzadeh, Farhad, Mohammadikebar, Yusef, Haghi, Roghayeh Nematdoust, Asl, Saeid Hosseini, Enteshary, Afsaneh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences of Bosnia and Herzegovina 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445631/
https://www.ncbi.nlm.nih.gov/pubmed/31097862
http://dx.doi.org/10.5455/medarh.2019.73.55-57
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author Salehzadeh, Farhad
Mohammadikebar, Yusef
Haghi, Roghayeh Nematdoust
Asl, Saeid Hosseini
Enteshary, Afsaneh
author_facet Salehzadeh, Farhad
Mohammadikebar, Yusef
Haghi, Roghayeh Nematdoust
Asl, Saeid Hosseini
Enteshary, Afsaneh
author_sort Salehzadeh, Farhad
collection PubMed
description INTRODUCTION: The auto-inflammatory diseases (AID) are a heterogeneous group of multi-system disorders of innate immunity dysregulation. MEFV gene has major role in AID. AIM: The aim of this study is to investigate the frequency of MEFV variant alleles in gout patients as an AID and their genotype-phenotype relationship. METHODS: Total amount of 224 of the healthy people as a control group (113 male and 111 female) and 24 gouty arthritis patients (20 male and 4 female) entered this study. Blood samples screened for the 12 common pathogenic mutations according to manufacturer’s instructions. RESULTS: The mean age of patients was 54 years. MTP joint was the most involved joint (91.66%). Mutations were shown in 5 patients (20.83%) that were not different from healthy population (25%). Five patients carry one mutated MEFV allele, E148Q in 4 patients and V726A in 1 patient. Control group showed 25% mutations as E148Q (18.3%), P369S (3.1%), V726A (2.2%), A744S (1.3%) respectively. The most common mutation detected in patients was E148Q (16.66%) and all of them were males. No significant and meaningful associations were detected between the MEFV gene mutations and gouty arthritis patients. CONCLUSION: There was not any correlation between MEFV gene mutations carriage with age, sex, the number of joint involvement and the course of disease in gouty arthritis. MEFV gene mutations were more frequent in men than women, but this is not statistically significant.
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spelling pubmed-64456312019-05-16 Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy Salehzadeh, Farhad Mohammadikebar, Yusef Haghi, Roghayeh Nematdoust Asl, Saeid Hosseini Enteshary, Afsaneh Med Arch Original Paper INTRODUCTION: The auto-inflammatory diseases (AID) are a heterogeneous group of multi-system disorders of innate immunity dysregulation. MEFV gene has major role in AID. AIM: The aim of this study is to investigate the frequency of MEFV variant alleles in gout patients as an AID and their genotype-phenotype relationship. METHODS: Total amount of 224 of the healthy people as a control group (113 male and 111 female) and 24 gouty arthritis patients (20 male and 4 female) entered this study. Blood samples screened for the 12 common pathogenic mutations according to manufacturer’s instructions. RESULTS: The mean age of patients was 54 years. MTP joint was the most involved joint (91.66%). Mutations were shown in 5 patients (20.83%) that were not different from healthy population (25%). Five patients carry one mutated MEFV allele, E148Q in 4 patients and V726A in 1 patient. Control group showed 25% mutations as E148Q (18.3%), P369S (3.1%), V726A (2.2%), A744S (1.3%) respectively. The most common mutation detected in patients was E148Q (16.66%) and all of them were males. No significant and meaningful associations were detected between the MEFV gene mutations and gouty arthritis patients. CONCLUSION: There was not any correlation between MEFV gene mutations carriage with age, sex, the number of joint involvement and the course of disease in gouty arthritis. MEFV gene mutations were more frequent in men than women, but this is not statistically significant. Academy of Medical Sciences of Bosnia and Herzegovina 2019-02 /pmc/articles/PMC6445631/ /pubmed/31097862 http://dx.doi.org/10.5455/medarh.2019.73.55-57 Text en © 2019 Farhad Salehzadeh, Yusef Mohammadikebar, Roghayeh Nematdoust Haghi, Saeid Hosseini Asl, Afsaneh Enteshary http://creativecommons.org/licenses/by-nc/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Paper
Salehzadeh, Farhad
Mohammadikebar, Yusef
Haghi, Roghayeh Nematdoust
Asl, Saeid Hosseini
Enteshary, Afsaneh
Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title_full Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title_fullStr Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title_full_unstemmed Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title_short Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
title_sort familial mediterranean fever gene mutations and gout as an auto-inflammatory arthropathy
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445631/
https://www.ncbi.nlm.nih.gov/pubmed/31097862
http://dx.doi.org/10.5455/medarh.2019.73.55-57
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