Publications by authors named "Neus Font-Porterias"
Article Synopsis
- Genetic variation in immune responses, particularly related to HLA and KIR genes, influences how First Nations peoples are affected by infectious diseases.
- HLA-A24:02 and the KIR3DL1 receptor have evolved in First Nations populations, showcasing a significant adaptation through natural selection.
- The KIR3DL1114 allele, unique to Oceania, demonstrates a strong interaction with HLA-A24:02, which enhances immune response, thus highlighting the importance of immunogenetic studies in understanding disease susceptibility.
Extreme polymorphism of HLA and killer-cell immunoglobulin-like receptors (KIR) differentiates immune responses across individuals. Additional to T cell receptor interactions, subsets of HLA class I act as ligands for inhibitory and activating KIR, allowing natural killer (NK) cells to detect and kill infected cells. We investigated the impact of HLA and KIR polymorphism on the severity of COVID-19.
View Article and Find Full Text PDFThe Resande are a minority ethnic group in Sweden, who were characterized by an itinerant way of life, and they have been suggested to originate from the mixture between Swedish and Romani populations. Because the population history of the Resande has been scarcely studied, we analyzed genome-wide genotype array data from unrelated Resande individuals in order to shed light on their origins and demographic history for the first time from a genetic perspective. Our results confirm the Romani-related ancestry of this population and suggest an admixture event between a Romani-like population and a general Swedish-like population that occurred approximately between the mid-18th and mid-19th centuries, two centuries after the arrival of the first historically reported Romani families in Sweden.
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- The Roma are a genetically diverse group with a shared identity and cultural heritage, and new genomic studies have shed light on their unique genetic background.
- Recent developments in genetic research have clarified the ancestral components of the Roma and traced their historical migrations, resolving longstanding debates about their origins and diaspora.
- Despite efforts to study the health determinants affecting the Roma, there has been little comprehensive review of their population genetics in the last 20 years, prompting the need for an updated summary for both the public and scholars.
Article Synopsis
- Genomic reference databases from different regions capture the full genetic diversity of local populations, making them useful for biomedical research and forensic identification.
- In a study involving 808 individuals from Catalonia, researchers created comprehensive sequences of mitochondrial DNA and the male-specific Y chromosome, revealing higher genetic diversity than existing population datasets.
- The study demonstrated that complete uniparental genomic sequences offer stronger identification capabilities than traditional methods, enhancing their usefulness in forensic applications and contributing one of the largest high-quality reference datasets currently available.
Synopsis: The ectodysplasin pathway has been a target of evolution repeatedly. Genetic variation in the key genes of this pathway (, , and ) results in a rich source of pleiotropic effects across ectodermally-derived structures, including teeth, hair, sweat glands, and mammary glands. In addition, a non-canonical Wnt pathway has a very similar functional role, making variation in the gene also of evolutionary significance.
View Article and Find Full Text PDFBackground: The general picture of human genetic variation has been vastly depicted in the last years, yet many populations remain broadly understudied. In this work, we analyze for the first time the Merchero population, a Spanish minority ethnic group that has been scarcely studied and historically persecuted. Mercheros have been roughly characterised by an itinerant history, common traditional occupations, and the usage of their own language.
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- - The study analyzes whole-exome sequences from two distinct Tunisian populations (Amazigh and Arab-speaking) to explore how their demographic histories affect genetic variation.
- - Findings show significant differences in genetic variation between the populations, suggesting that the Amazigh's isolation has led to genetic drift and increased inbreeding, while also indicating reduced natural selection pressures.
- - The research highlights the influence of culture and demographics on genetic diversity in North Africa and points out the necessity for more genetic and biomedical data to better understand health and disease in the region.
Article Synopsis
- Genetic variation among populations is influenced by their unique demographic and adaptive histories, leading to differences in mutation frequencies; however, much research tends to be Eurocentric and overlooks diverse groups like the Romani people, who have complex ancestry.
- This study examines exome sequences from 89 healthy Spanish Roma individuals to identify not just founder mutations but also variants affecting complex traits, revealing significant differences between Roma and non-Roma populations, particularly in conditions like obesity and diabetes.
- Findings highlight that certain genetic variants associated with drug responses and medical conditions differ in frequency between Roma and non-Roma, linking them to both South Asian and European ancestries, and indicating a need for inclusive research methodologies in medical genetics.
Article Synopsis
- Demographic history significantly influences genetic variation, particularly in the Roma population, Europe's largest ethnic minority with a South Asian origin.
- This study examines how recent population dispersals, founder events, and gene flow from non-Roma groups have affected the Roma's genetic diversity and rare variants.
- Findings indicate that bottlenecks reduced genetic diversity while admixture from other groups increased it, highlighting the complex interplay of these forces in shaping the Roma genome and contributing to our understanding of human genetic variation.
Article Synopsis
- The Roma Diaspora, originating from India and migrating through Western Asia to Europe, remains largely unexamined in historical migratory studies.
- Genetic analysis of 46 Roma individuals showed a significant founder effect and a 44% reduction in population size, indicating past bottlenecks and endogamy.
- Despite gene flow from other groups, over 50% of Roma genomes stem from non-Roma Europeans, highlighting the lingering genetic signatures of their early migration experiences.
Article Synopsis
- The Roma population is the largest ethnic minority in Europe, originating from Northwest India and migrating through Persia to the Balkans and eventually to the Iberian Peninsula by the 15th century.
- Genetic studies reveal that the Roma display a mix of South Asian and West Eurasian ancestries, with significant genetic implications for rare and common diseases.
- Research indicates that the proto-Roma likely stemmed from a Punjabi group, and highlights the genetic diversity within the Iberian Roma due to historical admixture with local populations.
Background: The genetic composition of human North African populations is an amalgam of different ancestral components coming from the Middle East, Europe, south-Saharan Africa and autochthonous to North Africa. This complex genetic pattern is the result of migrations and admixtures in the region since Palaeolithic times.
Aims: The objective of the present study is to refine knowledge of the population history of North African populations through the analysis of complete mitochondrial sequences.
Article Synopsis
- Haplogroup R1b-M269 is common in Western Europe, with R1b-DF27 being the least understood branch, mainly found in Iberia (Spain and Portugal).
- A study of 1072 R1b-DF27 chromosomes revealed that its frequency is about 40% in Iberia and up to 70% in Basques, but drops to 6-20% in France, indicating a regional distribution pattern.
- R1b-DF27 is estimated to have originated around 4,200 years ago in NE Iberia, coinciding with a significant change in Y chromosome profiles in Western Europe, showing geographic structuring similar to historic Celtic and Christian kingdoms