Biology subjects

Eyheramendy, S.

Publications and source records attributed to Eyheramendy, S..

3 recordsLinked to original sources

bioRxiv2025

Joint model shows association of Mapuche genetic ancestry and longitudinal BMI with early menarche

The age at puberty onset varies greatly between individuals and ethnic populations, with significant health implications. Early menarche increases risk for breast cancer, cardiovascular disease, depression, behavioral disorders, diabetes, and all-cause mortality. While genetic factors and higher body mass index (BMI) have been associated with earlier pubertal timing in girls, the effect of Native American genetic ancestry on menarche timing is virtually unknown. We assessed how individual Mapuche Native American genetic ancestry proportions and BMI changes over time influence age at menarche in a cohort of admixed girls with mainly European and Mapuche ancestries. We developed a novel joint statistical model that links a Bernoulli random variable with longitudinal trajectories. The model captures individual-specific BMI trajectory dynamics through individual random effects, linking longitudinal BMI patterns directly to early menarche risk, incorporating the assessment of genetic ancestry effects as well. Two parameter estimation methods were developed, confirming the robustness of the model fit. We found significant ancestry effects, with girls experiencing early menarche having higher mean Mapuche ancestry proportions (47.5% vs 45.1%, p = 0.010). Each 10% increase in Mapuche ancestry substantially increased early menarche risk ({gamma}1 = 3.405, p = 0.010). Childhood BMI growth patterns strongly predicted early menarche: both BMI change rate (1 = 1.189, p < 0.001) and growth acceleration (2 = 9.080, p = 0.003) were significant predictors, while baseline BMI showed no association (p = 0.254). These results demonstrate that higher Mapuche ancestry and accelerating BMI trajectories independently increase early menarche likelihood. Body mass index, early menarche, genetic ancestry, mixed models, joint modeling

genetics↗

bioRxiv2021

Genomic insights into the recent population history of Mapuche Native Americans

The last few years have witnessed an explosive generation of genomic data from ancient and modern Native American populations. These data shed light on key demographic shifts that occurred in geographically diverse territories of South America, such as the Andean highlands, Southern Patagonia and the Amazon basin. We used genomic data to study the recent population history of the Mapuche, who are the major Native population from the Southern Cone (Chile and Argentina). We found evidence of specific shared genetic ancestry between the Mapuche and ancient populations from Southern Patagonia, Central Chile and the Argentine Pampas. Despite previous evidence of cultural influence of Inca and Tiwanaku polities over the Mapuche, we did not find evidence of specific shared ancestry between them, nor with Amazonian groups. We estimated the effective population size dynamics of the Mapuche ancestral population during the last millennia, identifying a population bottle-neck around 1650 AD, coinciding with a period of Spaniards invasions into the territory inhabited by the Mapuche. Finally, we show that admixed Chileans underwent post-admixture adaptation in their Mapuche subancestry component in genes related with lipid metabolism, suggesting adaptation to scarce food availability.

genetics↗

bioRxiv2018

Whole genome sequence of Mapuche-Huilliche Native Americans

BackgroundWhole human genome sequencing initiatives provide a compendium of genetic variants that help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations and information on the genomic structure of Native Americans, especially those from the Southern Cone is scant.\n\nResultsHere we present a high-quality complete genome sequence of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile (85% genomic and 98% exonic coverage at > 30X), with 96-97% high confidence calls. We found approximately 3.1x106 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs that are not included in current sequencing databases. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a marginally admixed population from the Southern Cone, whose genetic component is derived from early Native American ancestors. In addition, we found that HUI genomes display highly divergent and novel variants with potential functional impact that converge in ontological categories essential in cell metabolic processes.\n\nConclusionsMapuche-Huilliche genomes contain a unique set of small- and large-scale genomic variants in functionally linked genes, which may contribute to susceptibility for the development of common complex diseases or traits in admixed Latinos and Native American populations. Our data represents an ancestral reference panel for population-based studies in Native and admixed Latin American populations.

genomics↗