IMPACT OF GENETIC ANCESTRY ON THE DISTRIBUTION OF INTERFERON-λ4 RS12979860 POLYMORPHISM IN A GLOBAL POPULATION OF BUENOS AIRES, ARGENTINA

MANSILLA, F.C.; AVENA, S.A.; DEJEAN, C.B.; TURCO, C.S.; CAPOZZO, A.V.

Basic and Applied Genetics

SOCIEDAD ARGENTINA DE GENÉTICA

Lugar: Buenos Aires; Año: 2022 vol. 33 p. 19 - 25

1666-0390

Human interferon-λ4 is a cytokine involved in early stages of antiviral responses. Strikingly, someallelic variants with diminished antiviral activity reduce the susceptibility to viral infections, thusthey would have suffered a positive selection pressure throughout the evolutionary history of thegenus Homo. An intronic variant within the IFNλ4 locus (rs12979860, T˃C) emerged as one of themain gene determinants of the response to HCV and other viruses. The rs12979860-C allele hasa differential frequency in African, European and Native American populations, though SouthAmerican data are scarce. Here we characterize for the first time the distribution of rs12979860genotypes in a sample of the global population of Buenos Aires, Argentina, assessing itsassociation with European, Native American and African parental components. The rs12979860genotypes were determined by PCR-RFLP in DNA samples from donors of a blood banks of BuenosAires (n=96), whose genetic individual ancestry (European, African or Native American) had beenpreviously determined using molecular markers. The distribution of rs12979860-CC, CT andTT was 29.17%, 50.0% and 20.83%, respectively. A significant increase in the frequency of CCamong donors with a strong European contribution and a greater impact of the Native Americancomponent among donors carrying the T allele were observed. Native American and Europeancomponents were associated to the rs12979860 distribution in a sample of the global population ofBuenos Aires, while no differences were directly attributable to the African ancestry. Consideringinterferon´s key role in antiviral responses, our results may contribute to both bioanthropologicaland immunogenetic studies associated with infectious diseases.