Abstract

BackgroundThe 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.ResultsThese 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.ConclusionsIt 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-015-0323-8) contains supplementary material, which is available to authorized users.

Highlights

  • The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, empathy and parenting

  • Allele and genotype frequency distributions obtained for our four samples were compared with each other as well as to 14 samples (live in and originated from Africa: Yoruba in Ibadan, Nigeria; Luhya in Webuye, Kenya; African Ancestry in Southwest US (AASUSA); Latin America: Colombian in Medellin; Puerto Rican in Puerto Rico; Mexican Ancestry in Los Angeles, California (MexAn); Asia: Han Chinese in Bejing (Han1), China; Southern Han Chinese (Han2), China; Japanese in Tokyo, Japan; live in and originated from Europe: Finnish in Finland; British in England and Scotland; Iberian populations in Spain; Utah residents with Northern and Western European ancestry (UNWE)) from the corresponding region retrieved from the 1000 Genomes database

  • In the case of Datoga, these two loci demonstrated free recombination: 0.48. This may be due to the bottleneck effect which took place in the 19th century when Datoga were kicked out from Ngoro-Ngoro region by Maasai, the other possibility is related to the hot spot of recombination located between the single nucleotide polymorphisms (SNPs)

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Summary

Introduction

The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, empathy and parenting. The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, such as empathy, affiliated behavior and parenting, and response to social stress [1]. Several studies have indicated an association of OT with mental disorders that are characterized by impaired social behavior, such as autism, anxiety, and depression [3]. OT is known to regulate social bonds in animals [6], and CD38−/− knockout mice had both decreased plasma OT level and significant social impairments, including poorer maternal nurturing and less effective social behaviors [7]. Recent studies suggest that oxytocin may have similar functions in human well-being [8]. Recent neuroimaging evidence suggests that those brain areas involved in emotion

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