Publications by authors named "A Huertas-Vazquez"
Article Synopsis
- Population isolates like Finland provide a unique advantage for genetic research by having concentrated deleterious alleles in low-frequency variants due to historical bottlenecks.
- The FinnGen study aims to analyze data from 500,000 Finnish individuals, focusing on their genomes and health records, particularly as many participants are older and have disease-related data.
- From the analysis of 224,737 participants and additional biobank data, researchers discovered 30 new associations and a total of 2,733 significant genetic links across various diseases, highlighting the importance of low-frequency variants in understanding common diseases.
Hepatic de novo lipogenesis is influenced by the branched-chain α-keto acid dehydrogenase (BCKDH) kinase (BCKDK). Here, we aimed to determine whether circulating levels of the immediate substrates of BCKDH, the branched-chain α-keto acids (BCKAs), and hepatic BCKDK expression are associated with the presence and severity of nonalcoholic fatty liver disease (NAFLD). Eighty metabolites (3 BCKAs, 14 amino acids, 43 acylcarnitines, 20 ceramides) were quantified in plasma from 288 patients with bariatric surgery with severe obesity and scored liver biopsy samples.
View Article and Find Full Text PDF