Médecine interne: libre accès
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Detection of BTNL2 Gene Mutation (rs2076530 Allele) in Iranian Sarcoidosis Patients: A clinical and Genetic Study

Reza Vazifehmand, Tina Saber, Hamid Reza Khorram Khorshid, Dhuha Saeed Ali, Foroozandeh monem homaie and Sassan Saber

Background/Aims: Sarcoidosis is a multiorgan granulomatous inflammatory disease of an unknown cause, probably due to inappropriate T-cell response. Mutation in BTNL2 gene (Butirophylin-like2) which is one of the most important genes in MHC II (complex tissue incompatibility) group is related to sarcoidosis. Our purpose was to evaluate BTNL2 rs2076530 G/A allele as a putative genetic risk for sarcoidosis in an Iranian population.

Methods: DNA from patients and controls was obtained from peripheral blood using standard methods. 490-bp amplicon of each samples were genotyped for the BTNL2 G → A transition of rs2076530 using an ABI 3130 automated sequencer-Big-Dye Terminator Version 3.1 Cycle.

Results: A total of 50 patients with sarcoidosis were registered in our study of which 33 were females (66%) and 17 were male (34%). 26 women (52% total) and 14 men (28% of total) showed SNP mutation in Exon/Intron 5 of the BTNL2 gene (P Value<0.001). In these groups of patients, 40 (80%) had G to A transition at rs2076530 allele and 10 patients (20%) didn't have the mutation. 40 control samples were checked as control and all of them were normal for this allele.

Conclusion: Our findings in clinical and also genetically, indicates that rs2076530 allele is a "high risk" criterion in Iranian sarcoidosis.