Annals of Human Genetics
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Annals of Human Genetics
@ahgeditor.bsky.social
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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.
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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/...
Figure 1: A flowchart describing the steps of WGS analysis in the study
November 20, 2025 at 7:35 PM
ahgeditor.bsky.social
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....
Figure 2: Morphology and ultrastructure analysis of spermatozoa in the fertile male and the man harbouring CFAP74 variants. (A) Morphology analysis of the spermatozoa from a fertile man and the proband P24 by modified Papanicolaou staining. (B) SEM analysis of spermatozoa cells from a control individual and the proband P24. The thinner midpiece was marked with a yellow arrow. (C) TEM analysis of spermatozoa ultrastructure. A cross section of sperm from a control participant displayed the typical ‘9 + 2’ microtubule structure with CP, nine pairs of peripheral DMT and an arrangement of ODF. Longitudinal section of the control participant displayed organized MS in flagella. Compared with the control, abnormal sperm ultrastructure could be observed in the proband P24. CP, central pair; DMT, doublet microtubule; MS, mitochondrial sheaths; MT, mitochondria; ODF, outer dense fibre; SEM, scanning electron microscopy; TEM, transmission electron microscopy.
October 27, 2025 at 2:22 PM
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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....
Figure 1: Distribution of LDL cholesterol levels by gene with identified variants (patients P1–P23).
October 20, 2025 at 10:28 AM
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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/...
Figure 1: Identification of the candidate c.118-4dup TMEM256 and c.1123G > A MYH3 variants. (A) The pedigree of the family, an arrowhead indicates the proband. Affected family members and non-penetrant carriers carrying the monoallelic TMEM256+/V and/or MYH3+/V variants are labeled in bold, while the wild-type genotypes (TMEM256+/+ and MYH3+/+) are indicated as WT.
October 2, 2025 at 10:27 AM
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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....
Figure 1: A schematic overview summarizing the study. GWAS stands for genome-wide association study; SNPs refer to single-nucleotide polymorphism; MR denotes Mendelian randomization; IVW signifies inverse-variance-weighted; and MR-PRESSO represents MR pleiotropy residual sum and outlier.
October 1, 2025 at 2:27 PM
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An Early View: A study reports a novel STAG1 splice-site variant linked to intellectual disability.

Whole exome sequencing and functional assays confirmed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.

🔗: onlinelibrary.wiley.com/doi/10.1111/...
Figure 1: The Sanger sequencing results of the proband and parents for the variants.
September 4, 2025 at 10:13 AM
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An Early View: A study of 819 individuals from Buenaventura, Colombia, examined 5 key variants linked to #malaria resistance.

Resistance genotypes were most frequent in young adults (13–26) and insular communities, suggesting local adaptation.

🔗: onlinelibrary.wiley.com/doi/full/10....
Figure 1: Geographical location of the study area and distribution of urban communities in Buenaventura, Valle del Cauca, Colombia. The figure shows the position of Buenaventura on the Pacific coast of Colombia, with its 12 urban communities highlighted. Communities 1 to 5 are located in the insular zone, while communities 6 to 12 are part of the continental zone. From Ortega et al. (2015). Licensed under CC BY 4.0: https://creativecommons.org/licenses/by/4.0/. Modified from original. Available at https://academicjournals. org/journal/IJGMB/article-abstract/8E4460450921.
September 3, 2025 at 11:13 AM
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📢The Annals of Human Genetics marks 100 years!🎉

Our Centenary Special Issue reflects on the journal’s history while celebrating recent advances and current investigations in human genetics, from statistical #genetics to #genomic medicine.

🔗 Read here: onlinelibrary.wiley.com/toc/14691809...
Cover image of the Annals of Human Genetics Centenary Special Issue
August 18, 2025 at 10:02 AM
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An Early View: Whole #exome sequencing in locally advanced rectal #cancer (LARC) reveals variants in SLC16A6 & SLC25A2 linked with poor neoadjuvant chemoradiotherapy (nCRT) response.

Findings point towards variants as predictors for tailored nCRT in LARC.

onlinelibrary.wiley.com/doi/10.1111/...
Figure 3 Scheme of gene interactions according to the String database: (A) genes associated with no response; (B) genes associated with good response (disconnected nodes were hidden from the network).
August 5, 2025 at 12:13 PM
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An Early View: A new case report identifies compound heterozygous LOXHD1 variants in a North Indian family with ARNSHL, expanding the gene’s allelic and regional diversity.

Supports a broader inclusion of LOXHD1 in diagnostic panels.

🔗Read the full letter: onlinelibrary.wiley.com/doi/full/10....
Figure 1: The pedigree illustrates segregation analysis of LOXHD1 variants: c.2879C>A, p.(Ser960Ter), and c.1441C>T, p.(Pro481Ser). The father is heterozygous for variant c.2879C>A, p.(Ser960Ter), and the mother is heterozygous for variation c.1441C>T, p.(Pro481Ser). The affected siblings with hearing loss inherited one variant from each parent, resulting in compound heterozygosity, consistent with an autosomal recessive inheritance pattern.
July 30, 2025 at 9:52 AM
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An Early View: #Genetic evidence supports a causal link between #GERD and myocardial infarction (MI).

Using Mendelian randomization, researchers found MI risk is partly mediated by hypertension and type 2 diabetes.

🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
July 29, 2025 at 10:31 AM
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An Early View: A population #genetics study evaluated a custom 41-marker multi-InDel system for its forensic efficacy and ability to capture genetic diversity in Chinese Hezhou and Southern Shaanxi Han populations.

🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
July 28, 2025 at 12:08 PM
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An Early View: A bidirectional MR study investigates the causal link between idiopathic pulmonary fibrosis (IPF) and CVD.

Findings suggest an inverse association between large artery atherosclerosis #stroke and IPF, with no clear causal ties to other CVDs.

🔗 onlinelibrary.wiley.com/doi/10.1111/...
Figure 1 Overview of the study design.
July 9, 2025 at 12:10 PM