Publications by authors named "N 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.
Article Synopsis
- The study explores how variations in HLA and KIR genes influence immune responses and COVID-19 severity, analyzing data from 403 non-hospitalized and 1575 hospitalized patients in Italy.
- A specific KIR gene variant (KIR2DS4*001) is linked to an increased risk of severe COVID-19, particularly in individuals who have two copies of this variant, while the HLA variant HLA-DPB1*13:01 appears to offer protective effects against severe disease.
- The research finds a connection between autoantibodies against interferon-alpha and COVID-19 severity, with certain genetic markers influencing the presence of these antibodies, indicating that genetic polymorphism plays a critical role
The 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.