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FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
Morteza Jabbarpour Bonyadi1, Mohammad Hossein Somi2, Mir Milad Pourmousavi Khoshknab2
1Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran.
Objectives:
Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and the most common mutant alleles of the MEFV gene in an Iranian Azeri Turk population.
Materials And Methods:
We analyzed clinical and genetic data from 415 patients identified as having FMF clinical symptoms and who were referred to the Molecular Genetics Laboratory of Tabriz/Iran over the last 3 years. The mutation type and clinical characteristics were determined for each patient.
Results:
The following primary clinical characteristics of the patients were observed peritonitis was observed in 378 (93.8%), high-grade fever in 351 (86.88%), arthritis in 215 (54.57%), pleuritis in 207 (53.49%), myalgia in 153 (41.69%), AA amyloidosis in 149 (40.16%), and erysipelas-like erythema in 54 (14.96%) subjects. A positive response to colchicines treatment was noted in 374 (95.1%) patients including 303 patients with two mutated alleles and 71 patients with one identified mutation.
Conclusion:
In contrast to previous studies, there was no significant association between M694V mutation and development of amyloidosis. The M680I/M680I, M680I, M694I, and M694V/R761H genotypes were found to be associated with the development of amyloidosis. These results indicate that physicians need to pay careful attention to patients with asymptomatic or mildly symptomatic FMF with these genotypes.
Insights
Familial Mediterranean fever (FMF) in Iranian Azeri Turks shows common symptoms like peritonitis and fever. Specific MEFV gene mutations, not M694V, are linked to amyloidosis development.
Area of Science:
- Genetics
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is an inherited autosomal recessive autoinflammatory disorder prevalent in Mediterranean populations.
- Clinical manifestations of FMF can vary significantly across different ethnic groups.
- Understanding ethnic-specific FMF characteristics is crucial for accurate diagnosis and management.
Purpose of the Study:
- To identify the most common clinical features of FMF in an Iranian Azeri Turk population.
- To investigate the association between specific MEFV gene mutations and clinical findings in this cohort.
- To correlate genotype with the risk of developing AA amyloidosis.
Main Methods:
- Clinical and genetic data from 415 FMF patients were analyzed.
- Patients were referred to the Molecular Genetics Laboratory in Tabriz, Iran.
- Mutation types and clinical characteristics were systematically recorded over three years.
Main Results:
- The most frequent symptoms included peritonitis (93.8%), high-grade fever (86.88%), and arthritis (54.57%).
- AA amyloidosis was observed in 40.16% of patients.
- A positive response to colchicine treatment was noted in 95.1% of patients.
Conclusions:
- Contrary to some studies, the M694V mutation was not significantly associated with amyloidosis.
- Specific genotypes (M680I/M680I, M680I, M694I, M694V/R761H) were linked to amyloidosis development.
- Physicians should monitor FMF patients with these genotypes closely, even if asymptomatic or mildly symptomatic.
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