Moscow University
Anthropology
Bulletin
Anthropology
Bulletin
1) Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow; 2) Lomonosov Moscow State University, Faculty of biology, Department of anthropology, Leninskie Gory, 1, p.12, Moscow, 119991, Russia; 3) Institute of ethnology and anthropology of the Russian Academy of Sciences, Moscow
Makarov S.V., e-mail: ecolab@med-gen.ru; Karapetian Marina, Ph.D., ORCID ID: 0000-0003-1886-8943, e-mail: marishkakar@hotmail.com; Balinova Natalia.V., Ph.D., ORCID ID: 0000-0001-9493-6544, e-mail: balinovs@mail.ru; Bets L.V., e-mail: larisa-bez@yandex.ru; Spitsyn Viktor A.
In the last decade of the 20th century an enzyme with chitinolytic activity was found in human blood plasma. It was named chitotriosidase (CHIT1) and has an important value for human innate immunity. This is a non-specific product synthesized by activated macrophages. Also, it presumably helps to combat chitin-containing agents. In human, highly increased chitotriosidase production (up to hundred folds) is associated with parasite invasion, infection, several genetic disorders (lysosomal storage diseases, Gaucher disease), cardiovascular diseases. CHIT1 gene shows variations in its nucleotide sequence, the widespread one is a 24bp duplication in exon 10. This mutation leads to abnormally spliced mRNA and inactivation of the enzyme catalytic centre. It was hypothesized that individuals, homozygous for the mutant allele, are more susceptible to chitin-containing pathogen invasion. It is known that minimum frequency of the duplication is observed in groups of African descent, in Caucasian groups it demonstrates intermediate values, while maximum values are observed for Asians. Because of its clinical significance and possible role in malaria, human chitotriosidase received quite a lot of attention from researchers. Thus, the study of CHIT1 gene is of medical and anthropological interest. This work is aimed at studying CHIT1 gene distribution among different populations of Russian Federation, perform a comparative analysis with data for other human populations and determine their relationship using genetic distance method. Blood samples of the Kalmyks (n=149), Nenets (n=85), Khanty (n=139) and Russians (n=106) were genotyped for the 24bp-indel-polymorphism (rs3831317) in CHIT1 gene. Frequency distributions of alleles and genotypes are presented. Genotype frequencies for Kalmyks were determined as TT – 23.5%, TH – 54.4%, HH – 22.1%; for Nenets – TT – 16.5%, TH – 49.4%, HH – 34.1%; for Khanty – TT – 36%, TH – 48.2%, HH – 15.8; and for Russians – TT – 68.9%, TH – 30.2%, HH – 0.9%. Allele frequencies in populations are compared to those taken from literature sources for other populations. As a result, the relative positions of studied populations were determined among other world populations. The CHIT1 polymorphism genotyping appears to be an effective tool for ethnic anthropology.
ethnic anthropology, genetic polymorphism, human chitotriosidase, 24-b.p.-duplcation, allele frequencies, human population genetics, phylogenesis
Цит.: Makarov S.V., Karapetian M.K., Balinova N.V., Betz L.V., Spitsyn V.A. Indel-polymorphism of the chitotriosidase gene (CHIT1) in four ethnic groups of Russia // Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2014; 2/2014; с. 38-45
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