Work

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

Year: 2015

Type: article

Abstract: Turkish BD patients (n = 1,609) and controls (n = 1,519) were genotyped for p.Gly47Arg mutations in the CECR1 gene using a Sequenom assay. The assay interrogated two mutant alleles of the first nucleotide of the Gly47 codon that both encode the glycine to arginine missense change. We found p.Gly47Arg mutations in 4 BD patients and 3 healthy controls. No individuals (neither cases or controls) carried two mutant alleles. The carrier frequency for p.Gly47Arg mutations was 0.002 in cases and in controls. These data show that the carrier rate of CECR1 p.Gly47Arg mutations is very low in Turkish Behcet's patients and not different from controls, suggesting no contribution to Behcet's disease.

Source: Pediatric Rheumatology

DOI: 10.1186/1546-0096-13-s1-p64