Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population

European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 24, 2025

Abstract The genetic distinctiveness of Indigenous Australian populations is well established, yet the Tiwi population remains underrepresented in research. Due to their prolonged geographic isolation, these are prone increased runs homozygosity (ROH). We investigated diversity population, isolated from mainland Australia for decades, based on ROH and associations with clinical traits. analyzed 455 whole genome sequences identify structure via PCA performed a comparison UK Biobank, Melanesian, Polynesian cohorts. assessment genome-wide regional measures were used explore between traits autozygosity. Our analysis revealed distinct characteristics that aligned closely those Melanesian cohort. individuals exhibited an burden ROH, particularly LINC0109 , FMLN1 RPL17P45 genes chromosomes 2, 17, 18, respectively, indicating isolation drift. A positive correlation was observed genomic F albumin-to-creatinine ratio (ACR) levels, suggesting potential link autozygosity renal health markers. Furthermore, association elevated ACR region FTO implicating its role obesity, kidney disease, cardiovascular conditions. Importantly, we found this strong under recessive model. This research lays robust foundation further exploration mapping implications disease susceptibility within communities worldwide.

Language: Английский

Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics

Genomics & Informatics, Journal Year: 2025, Volume and Issue: 23(1)

Published: March 6, 2025

Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health disease. These initiatives, which include the UK Biobank, All of Us Research Program, Singapore's PRECISE, Biobank Japan, National Project Bio-Big Data Korea, are generating unprecedented volumes high-resolution genomic data integrated with comprehensive phenotypic, environmental, clinical information. This review examines methodologies, contributions, challenges major WGS-based genome worldwide. We first discuss landscape highlighting their distinct approaches collection, participant recruitment, phenotype characterization. then introduce recent technological advances that enable efficient processing analysis large-scale WGS data, including improvements in variant calling algorithms, innovative methods creating multi-sample VCFs, optimized storage formats, cloud-based computing solutions. The synthesizes key discoveries from these projects, particularly identifying expression quantitative trait loci rare variants associated complex diseases. Our introduces latest findings has advanced our population-specific diseases Korean East Asian populations. Finally, we future directions maximizing impact on precision medicine global equity. examination demonstrates how revolutionizing research healthcare delivery while importance continued investment diverse, resources.

Language: Английский

Association of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi population: a case–control study

Molecular Biology Reports, Journal Year: 2025, Volume and Issue: 52(1)

Published: March 8, 2025

Language: Английский