Moscow University
Anthropology
Bulletin

Associations of C/T polymorphism of the alpha-actinin-3 (ACTN3) gene with some morphological characteristics

Bondareva E.A.,Anisimova A.V.,Khomyakova I.A.,Godina E.Z.

Lomonosov Moscow State University, Anuchin Research Institute and Museum of Anthropology, Mokhovaya st., 11, Moscow, 125009, Russia

Bondareva E.A., Ph.D., ORCID ID: 0000-0003-3321-7575, e-mail: Bondareva.E@gmail.com; Anisimova A.V., e-mail: anna.anisimova@anthropos.msu.ru; Khomyakova I.A., assistant prof., Ph.D., ORCID ID: 0000-0002-2811-2034, e-mail: irina-khomyakova@yandex.ru; Godina E.Z., D.Sc., prof., ORCID ID: 0000-0002-0692-420X, e-mail: egodina11@gmail.com

Abstract

Background. Investigations by different authors of the associations of C/T polymorphism of the ACTN3 gene with morphological characteristics showed the influence of a given marker on the possibility to weight increase, the degree of bone mineralization and flexibility in athletes and non-athletes of different age and ethnicity. Aim of the present paper was to study the associations of C/T replacement in the ACTN3 gene with skeletal traits in males of two ethnic groups of Russia. Materials and Methods. 320 males were studied: 220 Russians of 16-37 years old, athletes of different sports specializations; and 100 Kalmyks (16-35-year-olds), half of them constitute a control group and another half (50 individuals) represented athletes of different combat sports. Genotype of DNA samples for the polymorphic system ACTN3 (rs1815739) was determined by a minisequencing method with the following detection by MALDI-TOF. Anthropometric program included 30 characteristics measured according to standard protocol of the Institute of Anthropology. Results and discussion. For the Russian males significant associations were found between the ACTN3 genotypes with morphological traits characterizing the development of skeletal parameters: with breadth of bone epiphyses (R=0.21, p=0.04) and with body diameters (R=0.25, p=0.007). In Kalmyk males, the carriers of two mutant alleles (ACTN3*ТТ) had higher stature and elbow breadth than the carriers of ACTN3*СТ, ACTN3*СС genotypes (R=0.38, p=0.02). Conclusion. The results of the study prove to demonstrate that phenotypical expressions of the ACTN3 gene depend not only on specific genotype but also on ethnicity and way of life.

Keywords

sports anthropology, ACTN3, morphological characteristics, Russian males, Kalmyk males

Цит.: Bondareva E.A.,Anisimova A.V.,Khomyakova I.A.,Godina E.Z. Associations of C/T polymorphism of the alpha-actinin-3 (ACTN3) gene with some morphological characteristics // Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2015; 3/2015; с. 71-75

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