Bcıı--RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis.
OBJECTIVE
There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis.


METHODS
Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BclI-RFLP method.


RESULTS
Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p<0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (χ2: 13.18; p=0.000).


CONCLUSIONS
The current results indicate the germ-line mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.
Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University , Sivas , Turkey .
Ozturk
O
Ozdemir
Mansur
M
Kayatas
Selma
S
Cetinkaya
Malik Ejder
ME
Yildirim
Fatma
F
Silan
Hande Kucuk
HK
Kurtulgan
Binnur
B
Koksal
Mine
M
Urfali
Ferhan
F
Candan
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000209:etiology / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007249:Inflammation / Q000209:etiology / Q000378:metabolism; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D006435:Renal Dialysis / Q000009:adverse effects / Q000379:methods; D000685:Serum Amyloid A Protein / Q000235:genetics*; D013995:Time; D014421:Turkey
D003598:Cytoskeletal Proteins; D005819:Genetic Markers; C000604192:MEFV protein, human; D000071198:Pyrin; C521404:SAA1 protein, human; D000685:Serum Amyloid A Protein
Chronic renal failure; SAA1 gene BcII/RFLP polymorphism; common MEFV mutations; hemodialysis