Prevalence of lactase persistent/non-persistent genotypes and milk consumption in a young population in north-west Russia

AIM:To estimate the prevalence of the lactase non-persistent genotype(C/C-13910)in a northern Russian population in accordance with ethnicity,and to evaluate self-reported milk consumption depending on lactase activity. METHODS:Blood samples for genotyping lactase activity,defining the C/T-13910 variant by polymerase chain reaction,and direct sequencing were taken from 231 medical students of Russian origin aged 17-26 years. We analyzed milk product consumption by questionnaire which was specially designed for the estimation of milk consumption and abdominal complaints. RESULTS:We found that the prevalence of the C/C-13190 genotype in the northern Russian population was 35.6%.The other genotypes nearby C/T-13910 and associated with lactase activity were not present in the study population.The consumption of milk among people with the non-persistent genotype tended to be lower than among the lactose tolerant subjects,but was not statistically significant.CONCLUSION:An investigation of the lactase persistent genotype in a northern Russian population has not been performed before.The genotype did not affect the consumption of milk products in this population which could be explained by low consumption of milk products among the entire study population.

Endomysial antibodies predict celiac disease irrespective of the titers or clinical presentation

AIM:To investigate the association between serum antibody levels and a subsequent celiac disease diag-nosis in a large series of children and adults. METHODS:Besides subjects with classical gastrointestinal presentation of celiac disease,the study cohort included a substantial number of individuals with extraintestinal symptoms and those found by screening in at-risk groups.Altogether 405 patients underwent clinical,serological and histological evaluations.After collection of data,the antibody values were further graded as low[endomysial(EmA)1:5-200,transglutaminase 2 antibodies(TG2-ab)5.0-30.0 U/L]and high (EmA 1:≥500,TG2-ab≥30.0 U/L),and the serological results were compared with the small intestinal mucosal histology and clinical presentation. RESULTS:In total,79%of the subjects with low and 94%of those with high serum EmA titers showed small-bowel mucosal villous atrophy.Furthermore, 96%of the 47 EmA positive subjects who had normal mucosal villi and remained on follow-up either subsequently developed mucosal atrophy while on a glutencontaining diet,or responded positively to a glutenfree diet. CONCLUSION:Irrespective of the initial serum titers or clinical presentation,EmA positivity as such is a very strong predictor of a subsequent celiac disease diagnosis.