Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys

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dc.contributor.authorMiranda, José Patricio
dc.date.accessioned2023-05-19T20:50:40Z
dc.date.available2023-05-19T20:50:40Z
dc.date.issued2021
dc.description.abstractPuberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but we do not know how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a 6-month basis from childhood to adolescence between 2006 and 2019. We predict that the difference in HAPV between an European and a Mapuche adolescent is 4.3 cm higher in the European (P = 0.042) and APV is 0.73 years later for the European compared with the Mapuche adolescent on average (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P < 5 x 10(-8)). This signal has never been associated with growth-related traits.
dc.fechaingreso.objetodigital2025-01-03
dc.fuente.origenORCID-mayo23
dc.identifier.doi10.1007/s00439-021-02290-3
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/70308
dc.identifier.wosidWOS:000655840600001
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final1661
dc.pagina.inicio1651
dc.revistaHuman Genetics
dc.rightsacceso abierto
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNovel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boyses_ES
dc.typeartículo
dc.volumenVol. 140
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