title: Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
abstract: Progressive systemic amyloidosis is the most important complication of familial Mediterranean fever that inevitably leads to chronic renal failure. Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis. On the contrary, our data revealed that there was no dominance of any MEFV mutation in relation to amyloidosis. The difference between our mutation data and others led us to study a polymorphism in Turkish population that might be a risk factor for the occurrence of amyloidosis. As some of the previously reported exonic polymorphisms in other disease states found to increase the genetic susceptibility, we aimed to study Ala138Gly of the MEFV gene. Our study group consisted of 124 FMF patients, of which 47 had amyloidosis. Eighty-one individuals without any familial history of FMF were included as control group. There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9). However, when FMF/amyloidosis patients (n:47) were taken as another group, the difference was significant (p= 0.01) indicating that the carriers of 138Gly are more prone to amyloidosis [odds ratio 3.1 (CI 95% 1.57-5.75)].
authors.affiliation: Pediatric Molecular Genetics and Nephrology Departments, Ankara University, Turkey. nejat_akar@hotmail.com
authors.forename: E
authors.initials: E
authors.lastname: Akar
authors.forename: F
authors.initials: F
authors.lastname: Yalcinkaya
authors.forename: N
authors.initials: N
authors.lastname: Akar
mesh_terms: D000409:Alanine / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics*; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005998:Glycine / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D000409:Alanine; D005998:Glycine