Polymorphisms of two loci at the oxytocin receptor gene in populations of Africa, Asia and South Europe

BMC Genetics. 2016. Vol. 17. No. 17. P. 1–10.

Butovskaya M.

Background: The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior,
particularly empathy and parenting. The goal of this study was to estimate the gender and population differences
in polymorphisms of two oxytocin receptor gene SNPs, rs53576 and rs2254298, in four populations.
Results: These data were compared with each other and with 14 samples from the corresponding regions
retrieved from the 1000 Genomes database. Low level of heterozygosity was observed for both SNPs in all
populations in this study (rs53576: Catalonian, Hobs = 0.413; Hadza, Hobs = 0.556; sr2254698: Khanty-Mansi, Hobs =
0.250; Datoga, Hobs = 0.550). The amount of variance due to regional variability was almost equal for both SNPs
(rs53576: FRT = 0.086, rs2554298: FRT = 0.072), whereas variance for the population level of variability was twice
bigger for rs2554298 (rs53576: FST = 0.127, rs2554298: FST = 0.162). Pairwise coefficients of fixation demonstrate that
the Hadza were well differentiated from other African populations except of Datoga, the Datoga were weakly
differentiated from other African origin populations, the Ob Ugric people were extremely differentiated from all
other populations. Catalans were extremely differentiated of Asian populations.
Conclusions: It is hypothesized on the base of spatial distribution of the evolutionary novel A alleles of the both
OXTR gene loci, that the spread of alleles of rs22542298 and rs53376 SNPs may be associated to some extant with
manipulation of parental investment in humans.

Keywords: Datoga, Hadza, Oxytocin receptor gene, Ob Ugric, Catalans, Oxytocin receptor gene,, Hadza