PW01-003 – Frequency of MEFV mutations in Turkish population.

Our results showed that 62 of 388 participants (16.0%) (95% CI:12.5-20.0) were carriers of MEFV mutations. Seven individuals were compound heterozygous, two homozygous and 53 were heterozygous for the mutations. Mutation frequency was 9.2% (95% CI: 7.22-11.4). The most common mutations in the Turkish general population were p.E148Q, p.M694V and p.P369S and the frequencies were 3.6% (95% CI: 2.4-5.2), 2.6% (95% CI: 1.6-4.0) and 1.0% (95% CI: 0.5-2.0), respectively. Conclusion Our study shows a high frequency of carriers and independently confirms that M694V is the second most common mutation in the healthy Turkish population. If all the patients who had two most common mutations present the disease is anticipated the results of our study show that the disease is more common than predicted and one can speculate that patients with mild clinical findings might exist. Disclosure of interest None declared.