Although the KIR gene content polymorphism has been studied worldwide, only a few isolated or Amerindian populations have been analyzed. This extremely diverse gene family codifies receptors that are expressed mainly in NK cells and bind HLA class I molecules. KIR-HLA combinations have been associated to several diseases and population studies are important to comprehend their evolution and their role in immunity. Here we analyzed, by PCR-SSP (specific sequencing priming), 327 individuals from four isolated groups of two of the most important Brazilian Amerindian populations: Kaingang and Guarani. The pattern of KIR diversity among these and other ten Amerindian populations disclosed a wide range of variation for both KIR haplotypes and gene frequencies, indicating that demographic factors, such as bottleneck and founder effects, were the most important evolutionary factors in shaping the KIR polymorphism in these populations.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0056755 | PLOS |
JAMA Cardiol
January 2025
Cardiology Division, Department of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
Breast Cancer Res Treat
December 2024
Centro Nacional de Genética Médica, ANLIS ''Dr Carlos G Malbrán'', Ministerio de Salud de La Nación, Buenos Aires, Argentina.
Purpose: Among women in Argentina, the most common cancer is breast cancer (BC) with 21,631 new cases and 6436 deaths per year. The ovarian cancer (OC) is fifteenth in frequency. The contribution of cancer-related large genomic rearrangements (LGRs) of the BRCA1/BRCA2 genes and the 1100delC allelic variant in the CHEK2 gene has not yet been widely studied in our population.
View Article and Find Full Text PDFBackground: This study aims to elucidate ancestry-specific changes to the genomic regulatory architecture in induced pluripotent stem cell (iPSC)-derived oligodendroglia, focusing on their implications for Alzheimer's disease (AD). This work addresses the lack of diversity in previous iPSC studies by including ancestries that contribute to African American (European/African) and Hispanic/Latino populations (Amerindian/African/European).
Methods: We generated 12 iPSC lines-four African, four Amerindian, and four European- from both AD patients and non-cognitively impaired individuals, with varying genotypes ( and ).
Genes (Basel)
October 2024
Department of Anatomic Pathology, Faculty of Medicine, University of Chile, Santiago 8380453, Chile.
Although a lack of diversity in genetic studies is an acknowledged obstacle for personalized medicine and precision public health, Latin American populations remain particularly understudied despite their heterogeneity and mixed ancestry. This gap extends to COVID-19 despite its variability in susceptibility and clinical course, where ethnic background appears to influence disease severity, with non-Europeans facing higher hospitalization rates. In addition, access to high-quality samples and data is a critical issue for personalized and precision medicine, and it has become clear that the solution lies in biobanks.
View Article and Find Full Text PDFTrop Med Infect Dis
October 2024
One Health Research Group, Facultad de Medicina, Universidad De Las Américas (UDLA), Quito 170124, Ecuador.
, a liver fluke, is the causative agent of amphimeriasis, a foodborne disease acquired thought the consumption of infected raw or undercooked river fish-a practice embedded in traditional culinary customs. Amphimeriasis represents a significant public health issue and has been endemic in Ecuador since 2011, particularly among the Chachi Amerindians and Montubios populations residing in tropical ecoregions. By employing a mixed-methods research design, we conducted a community-based, cross-sectional study.
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