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Annals of Human Genetics @ahgeditor.bsky.social · 7d

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.

Annals of Human Genetics @ahgeditor.bsky.social · 7d

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.

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Annals of Human Genetics @ahgeditor.bsky.social · 18d

Today marks World Alzheimer’s Day 🌍

In support of eliminating #Alzheimer’s disease, we highlight research published in The Annals that advances this objective.

🔍 FSH and AD: onlinelibrary.wiley.com/doi/10.1111/...

🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/...

Potential Causal Association Between Follicle‐Stimulating Hormone and Alzheimer's Disease: Genetic Loci Study and Mendelian Randomization Study

Background Alzheimer's disease (AD) predominantly affects older women, with research suggesting elevated follicle-stimulating hormone (FSH) levels in postmenopausal women correlate with AD risk and ...

onlinelibrary.wiley.com

Annals of Human Genetics @ahgeditor.bsky.social · Sep 4

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.

Annals of Human Genetics @ahgeditor.bsky.social · Sep 3

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.

Annals of Human Genetics @ahgeditor.bsky.social · Aug 18

Thanks for highlighting our Centenary Issue! We’re thrilled to mark this milestone 🎉🎉

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Reposted by Annals of Human Genetics

UCL Faculty of Life Sciences @ucllifesciences.bsky.social · Aug 18

The Centenary Special Issue of The Annals of Human Genetics is now available!

First published in 1925, this special issue celebrates recent advances in human genetics, and features contributions from 13 @ucl.ac.uk researchers.

Check out the issue online: onlinelibrary.wiley.com/toc/14691809...

Cover image of The Annals of Human Genetics centenary issue.

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Annals of Human Genetics @ahgeditor.bsky.social · Aug 18

📢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

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Annals of Human Genetics @ahgeditor.bsky.social · Aug 5

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).

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Annals of Human Genetics @ahgeditor.bsky.social · Aug 4

An Early View: A systematic review of 33 GWAS-based polygenic risk score studies for #cancer in African ancestry populations highlights limited validation & clinical utility.

The authors call for more ancestry-specific #GWAS and standardized reporting to improve precision cancer risk prediction.

Polygenic Risk Score for Cancer in African Population: A Systematic Review

Purpose The aim of this systematic review is to identify all genome-wide association study (GWAS)-based polygenic risk score (PRS) studies (with different PRS approaches) reported in African ancestr.....

onlinelibrary.wiley.com

Annals of Human Genetics @ahgeditor.bsky.social · Jul 31

An Early View: A new commentary by @andyjmwalton.bsky.social, Dr Aylward, Prof Thomas, and ‪Dr @adamrutherford.bsky.social revisit the intellectual origins of #panmixia, revealing how essentialist assumptions shaped its early adoption in evolutionary theory, long before the Modern Synthesis.

The History of the Panmictic Population Concept and Its Legacy in Contemporary Population Genetics

ABSTRACT The panmictic population concept is at the heart of population, evolutionary and conservation genetics. However, in nature, true panmictic populations are vanishingly rare. As an idea conce...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 30

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.

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 29

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....

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 28

World #Hepatitis Day 🌍

Despite vaccines and cures, hepatitis remains the 2nd leading infectious cause of death globally (@who.int).

We highlight Annals research on how host genetics shape chronic Hepatitis C.

🔗: onlinelibrary.wiley.com/doi/10.1111/...

🔗: onlinelibrary.wiley.com/doi/10.1111/...

Glutathione S‐Transferase M1 and T1 Gene Polymorphisms and the Outcome of Chronic Hepatitis C Virus Infection in Egyptian Patients

We analysed the distribution of GSTM1 and GSTT1 gene polymorphisms in Egyptian patients with chronic hepatitis C, and investigated their relationship to the clinical outcome of chronic hepatitis C vi...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 28

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....

Annals of Human Genetics @ahgeditor.bsky.social · Jul 25

An Early View: A new review by Prof Van Steensel (@4dmanifold.bsky.social) reframes acne as a disease of sebaceous progenitor cells, with #GWAS and molecular data implicating stem cell dynamics and Wingless signaling. This challenges long-held assumptions and points toward new therapeutic targets.

The Genetics of Acne

This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated wi...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 23

An Early View: A new review by Prof Hodgson, Prof Foulkes, Prof Maher, and Prof @clare-turnbull.bsky.social traces the evolving landscape of inherited #cancer susceptibility, from tumor suppressor genes to polygenic risk scores. It highlights how genomic tools are reshaping treatment and detection.

Inherited Susceptibility to Cancer: Past, Present and Future

Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function var...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 22

An Early View: Can follicle-stimulating hormone (FSH) influence #Alzheimer’s risk?

A Mendelian randomization study suggests a statistically significant inverse causal link between FSH and AD, pointing to a protective role. Functional insights highlight #immune and #apoptosis-related pathways.

Potential Causal Association Between Follicle‐Stimulating Hormone and Alzheimer's Disease: Genetic Loci Study and Mendelian Randomization Study

Background Alzheimer's disease (AD) predominantly affects older women, with research suggesting elevated follicle-stimulating hormone (FSH) levels in postmenopausal women correlate with AD risk and ...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 21

An Early View: An essay written by Prof @stevesturdy.bsky.social examines 25 years of #genomic medicine in the UK, tracing how promissory narratives have shaped policy, investment, and expectations. It questions what’s been delivered, at what cost, and who ultimately benefits.

The Fortunes of Genomic Medicine: A Quarter Century of Promise

Background The culmination of the Human Genome Project in the early 2000s came wreathed in promises of a revolution in medicine and healthcare. The ensuing quarter century has seen remarkable growth...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 17

An Early View: Part of the Centenary Special Issue, this review traces the evolution of DNA variant interpretation, from expert judgement to ACMG/AMP guidelines, while addressing the persistent challenge of VUS. The authors place emphasis on equitable genomic practice via HUGO-led education efforts.

From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation

Background The classification of sequence variants is at the core of human genetic diagnostics and is the basis for clinical guidance - incorrectly classified variants may cause great harm to patien...

onlinelibrary.wiley.com

Annals of Human Genetics @ahgeditor.bsky.social · Jul 16

An Early View: Dr @nancybird1.bsky.social , Prof @turiking.bsky.social, & Prof Hellenthal examine the methodological advances and interpretive limits of genetic ancestry inference. The authors emphasize the need for a stronger focus on conveying uncertainty to mitigate risks of over-interpretation.

Power and Limitations of Inferring Genetic Ancestry

Background The recent emergence of technologies that capture and analyse genetic variation patterns obtained from a person's DNA sample has led to numerous academic and commercial endeavours to infe...

onlinelibrary.wiley.com

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Annals of Human Genetics @ahgeditor.bsky.social · Jul 10

An Early View: How far have we come since the Human #Genome Project?

This review reflects on 20 years of progress in rare disease diagnosis and care, highlighting insights from @uniquecharity.bsky.social, a global community of 30,000+ families affected by rare chromosome and gene disorders.

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

Annals of Human Genetics @ahgeditor.bsky.social · Jul 9

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/...

Annals of Human Genetics @ahgeditor.bsky.social · Jul 8

An Early View: Part of the Annals Centenary Special Issue, a newly published review explores the complex genetic network underlying human #pigmentation, detailing melanin synthesis, melanosome biology, and disorders such as #albinism, Waardenburg syndrome, and #melanoma.

Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders

Skin, hair, and eye (oculocutaneous) color is due to melanin, a pigment produced by melanocytes. This review considers processes required for pigmentation and the complex genetic network that regulat...

onlinelibrary.wiley.com

Annals of Human Genetics @ahgeditor.bsky.social · Jul 2

An Early View: New #genome-wide analysis with ∼20 million SNPs coverage reveals ancient links among Andamanese, Papuans & Negrito groups, and distinct structure between island & mainland #Southeast #Asia populations. This study refines our view of early human migration.

Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations

Introduction Southeast Asia (SEA) is a region with enriched human diversity and complex population history. Despite numerous small-scale population genetics studies being carried out, the map of hum...

onlinelibrary.wiley.com

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