Annals of Human Genetics
@ahgeditor.bsky.social
The Annals of Human Genetics, founded in 1925, aims to explore the causes and consequences of human genetic variation. Editor-in-Chief is Dr Rosemary Ekong.
An Early View: A recent letter to the editor of The Annals reviews the methodology and hypothesis of the article ‘Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High-Altitude Adaptive Genetic #Variants in #Sherpa Highlanders’. 🔗 Read the full letter here:
Letter on ‘Downregulation of <i>EPAS1</i> and <i>EGLN1</i> mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders’
Click on the article title to read more.
onlinelibrary.wiley.com
An Early View: Early #GWAS of #psychiatric disorders were in predominantly in European populations, limiting understanding of genetic architecture across populations. Future studies should integrate admixed populations to improve discovery and clinical translation. 🔗 Read the full article here:
Trans‐Ancestry Psychiatric Genomics in Admixed Populations: Advances, Challenges, and Future Directions
Background Early genome-wide association studies (GWAS) of psychiatric disorders were conducted predominantly in European populations, limiting the understanding of genetic architecture across ances...
onlinelibrary.wiley.com
An Early View: A first of its kind study confirmed the utility of Alu insertion #variants for inferring geographic ancestry in a #Kuwaiti population. 🔗 Read the full article here: doi.org/10.1111/ahg....
An Early View: Using Mendelian randomisation and logistic regression, Dr @katiesaxby.bsky.social and colleagues show that #metformin is likely to reduce abdominal #aortic #aneurysm risk and may represent a viable therapy to prevent aneurysm growth and/or rupture. 🔗 Read the full article here:
Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets
Aims There is no proven treatment to prevent the growth or rupture of abdominal aortic aneurysm (AAA). As an aneurysm enlarges over time, the risk of fatal aortic rupture increases. Metformin, a dru...
onlinelibrary.wiley.com
An Early View: Findings from a study assessing HLA variation in #COVID-19 vaccinated #Bangladeshi population indicate HLA-DRB1 alleles may have an association with SARS-CoV-2 seroprevalence. 🔗 Read the full article here: doi.org/10.1111/ahg....
An Early View: #Exome sequencing, #RNA studies, and a minigene assay of urine-derived cells identified pathogenic variants in L1CAM associated with a spectrum of neurodevelopmental disorders. This report broadens the molecular spectrum of intronic L1CAM variants. 🔗 Read the full article here:
Utility of Urine‐Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic <i>L1CAM</i> Variant
Background Pathogenic variants in L1CAM, located at Xq28, cause a spectrum of neurodevelopmental disorders of varying severity, including congenital hydrocephalus, MASA syndrome, agenesis of the cor...
onlinelibrary.wiley.com
An Early View: Screening of #genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree identified a novel FIGLA variant (c.385-9G>A). This variant disrupts mRNA splicing, potentially contributing to #POI. 🔗 Read the full article here:
<i>FIGLA</i> Novel Variant c.385‐9G>A Affects RNA Splicing in a Minigene Assay
Objective This study aims to screen for genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree. Methods The proband underwent whole exome sequencing (WES)...
onlinelibrary.wiley.com
An Early View: #Preeclampsia (PE) is a hypertensive pregnancy disorder. In a mixed design cohort of early pregnancy, serum levels and #epigenetic profiles suggest epigenetic modulation of antioxidant and angiogenic pathways in women at risk for PE. 🔗 Read the full article: doi.org/10.1111/ahg....
An Early View: Mendelian randomization analysis provides genetic evidence linking increased total hip bone marrow adipose tissue (BMAT) to higher risk of #Alzheimer's disease. The results identify BMAT as a potential target for future AD research. 🔗 Read the full article: doi.org/10.1111/ahg....
An Early View: A novel biallelic REL frameshift variant, p.(Tyr9Ilefs*2), expands the mutational spectrum of the REL gene, causing Immunodeficiency-92, an exceptionally rare inborn error of #immunity linked to profound c-Rel deficiency. 🔗 Read the full article: doi.org/10.1111/ahg....
An Early View: Integrative multiomics and MR identify PSMA4 as a causal therapeutic target for #atherosclerosis. Evidence supports its role in plaque biology, with proteasome inhibitors identified as potential repurposing candidates. 🔗 Read the full article: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: MR and colocalization analyses assessed whether genetically predicted #hypertension influences breast #cancer risk in women of African ancestry. No robust causal genetic relationship or shared loci were identified. 🔗 Read the full article: onlinelibrary.wiley.com/doi/full/10....
An Early View: #Genome-wide SNP analysis of Southeast Asian populations reveals clear genetic differentiation between indigenous groups and Malays, despite shared geography. 🔗 Read the full article: doi.org/10.1111/ahg....
Register now for Human Genome Meeting 2026, which will be held at the historic Zappeion Megaron, Athens, from April 21 to 24, 2026. Don't miss this final opportunity to secure your spot at our special discounted rate! Register Now: www.hugo-hgm2026.org #HGM2026 #TheGoldenHelixFoundation
#RareDiseaseDay recently passed, but at Annals of Human Genetics, we’re proud of the research published. The work of our authors helps to shorten the diagnostic odyssey and advance new treatments. Explore a recent review that reflects on how genomics has transformed rare disease diagnosis and care.
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions
Availability and implementation of genetic testing on a national and global level have advanced exponentially over the last few decades. While having a diagnosis of a rare genetic condition can have ...
onlinelibrary.wiley.com
#HGM2026 in Athens will focus on latest developments in human genomics. #TheGoldenHelixFoundation
Human Genome Organisation@humangenomeorg.bsky.social · 6mo agoWe are honored to welcome Prof. Karen Miga (UC Santa Cruz) as an invited speaker at #HGM2026. She will discuss recent breakthroughs in human genome assembly and centromere biology. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
This April join #HGM2026 in Athens to hear about breakthroughs in human genomics! #TheGoldenHelixFoundation
Human Genome Organisation@humangenomeorg.bsky.social · 6mo agoWe are pleased to include Prof. Alessio Squassina (University of Cagliari) as an invited speaker at #HGM2026. His talk will address pharmacogenomics and precision psychiatry. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
#HGM2026 welcomes Prof. Isidore Rigoutsos (Thomas Jefferson University) as an invited speaker. He will present on computational genomics, regulatory networks, and systems-level genome analysis. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
#HGM2026 welcomes Prof. Aime Lumaka (University of Kinshasa) as an invited speaker. He will discuss genomics research in African populations and its implications for global health and medicine. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
An Early View: #Genetic analysis of Sherpa highlanders shows adaptive variants in EPAS1 and EGLN1 linked to reduced gene expression and a blunted EPO response under chronic hypoxia. This offers insight into human high-altitude adaptation. 🔗 Read the full article: doi.org/10.1111/ahg....
Attend #HGM2026 in April in Athens to hear from leading voices in human genomics! #TheGoldenHelixFoundation
Human Genome Organisation@humangenomeorg.bsky.social · 7mo agoWe are delighted to announce Prof. Bassam R. Ali (United Arab Emirates University) as an invited speaker at #HGM2026. His talk will highlight advances in human genetic disorders and population genomics. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
Less than 80 days to the Human Genome Meeting! #HGM2026 #TheGoldenHelixFoundation
Human Genome Organisation@humangenomeorg.bsky.social · 7mo agoWe are delighted to feature Prof. Gabriela Repetto (Universidad del Desarrollo) as an invited speaker at #HGM2026. She will share insights on genomics-driven rare disease research and precision oncology strategies. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation
An Early View: Mitonuclear discordance has been proposed to impair #mitochondrial function in admixed populations. In 2,301 Māori and Pacific peoples in Aotearoa New Zealand, higher discordance was associated with lower risk of #gout and #T2DM, particularly in the prevalent B4a1a mtDNA haplogroup.
Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific People
Background Mitochondrial proteins are encoded by both mitochondrial- and nuclear-encoded genes. Because mitochondrial DNA (mtDNA) is maternally inherited, admixed individuals may have different ance...
onlinelibrary.wiley.com
An Early View: Single-cell transcriptomics in #hepatocellular #carcinoma identifies a rare cancer stem-like cell population and Cancer Stem-like Cell Risk Score (CARS). Higher CARS predicted poorer survival, increased drug resistance and drug sensitivity. 🔗: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: #Exome sequencing of three rare neurological disorders in three unrelated Pakistani families revealed novel pathogenic variants in ADGRG1, KAT8, and FAM126A, expanding the allelic and geographic spectrum of neurological disorders. 🔗: onlinelibrary.wiley.com/doi/10.1111/...
Today is World Pancreatic Cancer Day🟪 Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%. We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: Whole-exome sequencing of 44 men with #asthenoteratozoospermia identified CFAP74 variants as potential causes of male #infertility. Novel compound heterozygous and homozygous CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology. 🔗: doi.org/10.1111/ahg....
An Early View: A study of 133 children with suspected dyslipidemia in Türkiye used targeted NGS to explore the genetic basis of #pediatric lipid disorders. Pathogenic variants were seen in 17% of cases, most often in LDLR, with novel variants found in LDLRAP1 and APOB. 🔗: doi.org/10.1111/ahg....
An Early View: Findings from five-generation Polish family identified TMEM256 as a novel candidate gene for #clubfoot and implicates a known MYH3 variant in arthrogrypotic hand deformities. 🔗: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A Mendelian randomization + bioinformatics study revealed 20 lipids that have a potential causal relationship with #Alzheimer's disease, #Parkinson's disease & epilepsy. Findings suggest lipids may serve as biomarkers & therapeutic targets. 🔗: onlinelibrary.wiley.com/doi/full/10....
