IODINE NUTRITION IN THE REPUBLIC OF ARTSAKH (NAGORNO KARABAKH).

OBJECTIVE: Iodine is a required nutrient for thyroid function. The mountainous terrain in the Republic of Artsakh (Nagorno Karabakh) in the south Caucasus suggests that it is likely to be endogenously deficient in iodine. The region is heavily dependent on neighboring Armenia for food imports including iodized salt. Since 2005, iodine is a government-sanctioned compulsory supplemental ingredient in salt in Armenia. However, there has never been a study of iodine nutrition in Artsakh. We sought to determine the level of iodine nutrition in Artsakh and the iodine content of table salt in the region. METHODS: Using a cross-sectional modified cluster model, we measured urine and salt iodine concentrations from a representative sample of children living in Artsakh. From 30 schools throughout the territory, we obtained 772 urine samples from children aged 8 to 10, and 323 samples of table salt. Repeat urine samples from 18.6% of participants were obtained. RESULTS: The median adjusted urinary iodine content was 203 µg/L (mean 206 µg/L, 95% confidence interval 202-210), within the range indicating sufficient iodine nutrition. There were small but statistically significant differences between the 8 administrative regions; however, there were no differences between individual sites. We found that 97.2% of table salt samples tested had iodine concentrations within the standard of 25 to 55 mg/kg. CONCLUSION: Among school-age children in Artsakh, iodine nutrition is adequate, and the salt is appropriately iodized. These results illustrate the remarkable success of the Armenian salt iodization program in providing sufficient but not excessive iodine to the mountainous territory of Artsakh. Abbreviation: UIC = urinary iodine concentration.

Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.

OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal-recessive disorder that is common in Armenian, Turkish, Arab, and Sephardic Jewish populations. Its clinical diagnosis is one of exclusion, with the patients displaying nonspecific symptoms related to serosal inflammation. MEFV gene analysis has provided the first objective diagnostic criterion for FMF. However, in the absence of an identified mutation (NI/NI genotype), both the sensitivity of the molecular analyses and the involvement of the MEFV gene in FMF are called into question. The present study was designed to further evaluate the diagnostic value of MEFV analysis in another population of Mediterranean extraction. METHODS: The MEFV gene was screened for mutations in 50 patients living in Karabakh (near Armenia) who fulfilled the established criteria for FMF. In addition, we analyzed published series of patients from the above-mentioned at-risk populations. RESULTS: The mutation spectrum in Karabakhian patients, which consisted of only 6 mutations (with 26% of NI alleles), differed from that reported in Armenian patients. Strikingly, among patients from Karabakh and among all classically affected populations, the distribution of genotypes differed dramatically from Hardy-Weinberg equilibrium (P = 0.0016 and P < 0.00001, respectively). These results, combined with other population genetics-based data, revealed the existence of an FMF-like condition that, depending on the patients' ancestry, was shown to affect 85-99% of those with the NI/NI genotype. CONCLUSION: These data illuminate the meaning of negative results of MEFV analyses and show that in all populations evaluated, most patients with the NI/NI genotype had disease that mimicked FMF and was unrelated to the MEFV gene. Our findings also demonstrate the high sensitivity of a search for very few mutations in order to perform a molecular diagnosis of MEFV-related FMF.