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

Lucas Vicuña, Tomás Norambuena, José Patricio Miranda, Ana Pereira, Veronica Mericq, Linda Ongaro, Francesco Montinaro, José L. Santos, Susana Eyheramendy

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Puberty 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 it is unknown 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, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (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 × 10 - 8). This signal has never been associated with growth-related traits.

Original languageEnglish
Pages (from-to)1651-1661
Number of pages11
JournalHuman Genetics
Issue number12
StatePublished - Dec 2021


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