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Dec 5, 2024 | 
nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more
AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
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Aug 28, 2024 | 
nature.com | Jiantao Chen |Zhijian Yang |Ranran Zhai |Xiao Feng |Ting Li |Denis Maslov | +25 more
AbstractUnderstanding the genetic basis of neuro-related proteins is essential for dissecting the molecular basis of human behavioural traits and the disease aetiology of neuropsychiatric disorders. Here the SCALLOP Consortium conducted a genome-wide association meta-analysis of over 12,000 individuals for 184 neuro-related proteins in human plasma. The analysis identified 125 cis-regulatory protein quantitative trait loci (cis-pQTL) and 164 trans-pQTL.
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Aug 26, 2024 | 
biorxiv.org | Feng Zhou |William Astle |Adam S. Butterworth |Jennifer Lea Asimit
AbstractGenome-wide association studies (GWAS) of high-dimensional traits, such as molecular phenotypes or imaging features, often use univariate approaches, ignoring information from related traits. Biological mechanisms generating variation in high-dimensional traits can be captured parsimoniously through GWAS of a smaller number of latent factors from factor analysis. Here, we introduce a zero-correlation multi-trait fine-mapping approach, flashfmZero, for any number of latent factors.
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Jun 5, 2024 | 
nature.com | Barbara Schormair |Steven Bell |Maria Didriksen |Ambra Stefani |Georgios M. Hadjigeorgiou |Owen A Ross | +16 more
AbstractRestless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X.
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May 23, 2024 | 
alpine-club.org.uk | Adam S. Butterworth
The Alpine Club, the world’s first mountaineering club, was founded in 1857. For over 150 years, members have been at the leading edge of worldwide mountaineering development and exploration.
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Apr 28, 2024 | 
nature.com | Karl Smith-Byrne |Marios Dimitriou |Mine Koprulu |Maik Pietzner |Claudia Langenberg |Joshua Atkins | +10 more
AbstractCirculating proteins can reveal key pathways to cancer and identify therapeutic targets for cancer prevention. We investigate 2,074 circulating proteins and risk of nine common cancers (bladder, breast, endometrium, head and neck, lung, ovary, pancreas, kidney, and malignant non-melanoma) using cis protein Mendelian randomisation and colocalization. We conduct additional analyses to identify adverse side-effects of altering risk proteins and map cancer risk proteins to drug targets.
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Apr 19, 2024 | 
alpine-club.org.uk | Adam S. Butterworth
La Chamoniarde mountain conditions report for 19 April 2024.
Here's a little snowy update following the return of winter as well as an overview of the routes we've reported on before, when the weather was milder. It's going to snow again tonight, and the wind has been working hard since yesterday: beware of the avalanche risk.
Glacier conditions are generally good to very good.
Lifts open: Grands Montets, Brévent (partially open, closed this Sunday), Aiguille di Midi, Montenvers and Skyway.
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Apr 5, 2024 | 
alpine-club.org.uk | Adam S. Butterworth
Dorothy Pilley was one of the most significant figures of early 20th Century mountaineering. A member of numerous mountaineering clubs and a founder of the all-women Pinnacle Club, she climbed extensively in the Alps and North America, alongside her husband Ivor Richards. In 1928, together with Ivor and the guides Joseph and Antoine Georges, Dorothy made the first ascent of the north-north-west ridge of the Dent Blanche.
