Determinants of obesity in Latin America

Nature Metabolism, Journal Year: 2024, Volume and Issue: 6(3), P. 409 - 432

Published: March 4, 2024

Language: Английский

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Genetic architecture in Greenland is shaped by demography, structure and selection

Nature, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 12, 2025

Greenlandic Inuit and other indigenous populations are underrepresented in genetic research1,2, leading to inequity healthcare opportunities. To address this, we performed analyses of sequenced or imputed genomes 5,996 Greenlanders with extensive phenotypes. We quantified their historical population bottleneck how it has shaped architecture have fewer, but more common, variable sites. Consequently, find twice as many high-impact genome-wide associations metabolic traits Greenland compared Europe. infer that the variants arose after split from Native Americans thus Arctic-specific, show some them common due not only drift also selection. European-derived polygenic scores for half accurate Europeans, adding Arctic-specific improves overall accuracy same level Europeans. Similarly, lack representation public databases makes clinical screening harder Inuit, inclusion data remedies this by reducing number non-causal candidate sixfold. Finally, identify pronounced fine structure explains differences prevalence monogenic diseases and, together recent changes mobility, leads a predicted future reduction risk certain recessive diseases. These results illustrate including can greatly reduce genomic-based healthcare. Arctic populations.

Language: Английский

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A genealogy-based approach for revealing ancestry-specific structures in admixed populations

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 14, 2025

Elucidating ancestry-specific structures in admixed populations is crucial for comprehending population history and mitigating confounding effects genome-wide association studies. Existing methods elucidating the generally rely on frequency-based estimates of genetic relationship matrix (GRM) among individuals after masking segments from ancestry components not being targeted investigation. However, these approaches disregard linkage information between markers, potentially limiting their resolution revealing structure within an component. We introduce expected GRM (as-eGRM), a novel framework relatedness individuals. The key design as-eGRM consists defining pairwise based genealogical trees encoded Ancestral Recombination Graph (ARG) local calls computing expectation across genome. Comprehensive evaluations using both simulated stepping-stone models empirical datasets three-way Latino cohorts showed that analysis robustly outperforms existing with diverse demographic histories. Taken together, has promise to better reveal fine-scale component individuals, which can help improve robustness interpretation findings studies disease or complex traits understudied populations.

Language: Английский

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Genetic analysis of APOE reveals distinct origins and distribution of ancestry-enrichment haplotypes in the Mexican Biobank

Genes & Diseases, Journal Year: 2025, Volume and Issue: unknown, P. 101542 - 101542

Published: Jan. 1, 2025

Language: Английский

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Microbial Communities in Agave Fermentations Vary by Local Biogeographic Regions

Environmental Microbiology Reports, Journal Year: 2025, Volume and Issue: 17(1)

Published: Jan. 24, 2025

ABSTRACT The production of traditional agave spirits in Mexico, such as mezcal, involves a process that uses environmental microorganisms to ferment the cooked must from plants. By analysing these microorganisms, researchers can understand dynamics microbial communities at interface natural and human‐associated environments. This study involved 16S ITS amplicon sequencing 99 fermentation tanks 42 distilleries across Mexico. Agave species used, methods, climatic conditions biogeographic characteristics varied significantly among sites. However, certain taxa were found most fermentations, indicating core group common communities. primary variable consistently associated with composition both bacterial fungal was distillery, suggesting local practices site‐specific attributes influence microbiomes. stage, climate producing region also affected community but only for prokaryotes. Analysis multiple within three showed enriched specific stages or species. research provides detailed analysis microbiome offering important knowledge its management conservation.

Language: Английский

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Leveraging protein structural information to improve variant effect prediction

Current Opinion in Structural Biology, Journal Year: 2025, Volume and Issue: 92, P. 103023 - 103023

Published: Feb. 22, 2025

Despite massive sequencing efforts, understanding the difference between human pathogenic and benign variants remains a challenge. Computational variant effect predictors (VEPs) have emerged as essential tools for assessing impact of genetic variants, although their performance varies. Initially, sequence-based methods dominated field, but recent advances, particularly in protein structure prediction technologies like AlphaFold, led to an increased utilization structural information by VEPs aimed at scoring missense variants. This review highlights progress integrating into VEPs, showcasing novel models such AlphaMissense, PrimateAI-3D, CPT-1 that demonstrate improved evaluation. Structural data offers more interpretability, especially non-loss-of-function provides insights complex interactions vivo. As field utilizing biomolecular structures will be pivotal future VEP development, with breakthroughs protein-ligand protein-nucleic acid offering new avenues.

Language: Английский

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A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children

Cell Genomics, Journal Year: 2024, Volume and Issue: 4(4), P. 100526 - 100526

Published: March 26, 2024

Hispanic/Latino children have the highest risk of acute lymphoblastic leukemia (ALL) in US compared to other racial/ethnic groups, yet basis this remains incompletely understood. Through genetic fine-mapping analyses, we identified a new independent childhood ALL signal near IKZF1 self-reported individuals, but not non-Hispanic White with an effect size ∼1.44 (95% confidence interval = 1.33-1.55) and allele frequency ∼18% populations <0.5% European populations. This was positively associated Indigenous American ancestry, showed evidence selection human history, reduced expression. We putative causal variant downstream enhancer that is most active pro-B cells interacts promoter. disrupts autoregulation at results activity B cell progenitors. Our study reveals for increased children.

Language: Английский

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Biobanking with genetics shapes precision medicine and global health

Nature Reviews Genetics, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 20, 2024

Language: Английский

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The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin

Frontiers in Oncology, Journal Year: 2024, Volume and Issue: 13

Published: Jan. 9, 2024

Acute lymphoblastic leukemia (ALL) is the most common cancer in children, and disproportionately affects children of Hispanic/Latino ethnicity United States, who have highest incidence disease compared with other racial/ethnic groups. Incidence childhood ALL similarly high several Latin American countries, notably Mexico, concern rising some populations that may further widen this disparity. Prior studies implicated germline genetic variants increased risk among children. In review, we describe known disparities as well patient outcomes affect across Americas, focus on role variation Indigenous ancestry etiology these disparities. Finally, discuss future avenues research to our understanding causes origin, which will be required for precision prevention efforts.

Language: Английский

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Promoting equity in polygenic risk assessment through global collaboration

Nature Genetics, Journal Year: 2024, Volume and Issue: 56(9), P. 1780 - 1787

Published: Aug. 5, 2024

Language: Английский

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