Riviste scientifiche

When people sleep more they also eat less sugar and carbs

New Scientist - Me, 10/01/2018 - 01:15
When people are given advice on how to get more sleep, not only do they get more slumber than they used to, they also start eating more healthily

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

PLoS Medicine - Ma, 09/01/2018 - 23:00

by Iris Broce, Celeste M. Karch, Natalie Wen, Chun C. Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A. Ross, Günter U. Höglinger, Ulrich Muller, John Hardy, International FTD-Genomics Consortium , Parastoo Momeni, Christopher P. Hess, William P. Dillon, Zachary A. Miller, Luke W. Bonham, Gil D. Rabinovici, Howard J. Rosen, Gerard D. Schellenberg, Andre Franke, Tom H. Karlsen, Jan H. Veldink, Raffaele Ferrari, Jennifer S. Yokoyama, Bruce L. Miller, Ole A. Andreassen, Anders M. Dale, Rahul S. Desikan, Leo P. Sugrue


Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed.

Methods and findings

Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders—namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)—and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold). For FTD, at a conjunction false discovery rate < 0.05 and after excluding SNPs in linkage disequilibrium, we found that 8 of the 15 identified loci mapped to the human leukocyte antigen (HLA) region on Chromosome (Chr) 6. We also found novel candidate FTD susceptibility loci within LRRK2 (leucine rich repeat kinase 2), TBKBP1 (TBK1 binding protein 1), and PGBD5 (piggyBac transposable element derived 5). Functionally, we found that the expression of FTD–immune pleiotropic genes (particularly within the HLA region) is altered in postmortem brain tissue from patients with FTD and is enriched in microglia/macrophages compared to other central nervous system cell types. The main study limitation is that the results represent only clinically diagnosed individuals. Also, given the complex interconnectedness of the HLA region, we were not able to define the specific gene or genes on Chr 6 responsible for our pleiotropic signal.


We show immune-mediated genetic enrichment specifically in FTD, particularly within the HLA region. Our genetic results suggest that for a subset of patients, immune dysfunction may contribute to FTD risk. These findings have potential implications for clinical trials targeting immune dysfunction in patients with FTD.

People with diabetes seem to be protected against migraine

New Scientist - Ma, 09/01/2018 - 18:30
Doctors' hunches that people with diabetes get fewer migraines have finally been backed up by good evidence and it could help us treat migraines

Arsonist falcons suggest birds discovered fire before humans did

New Scientist - Ma, 09/01/2018 - 18:30
Multiple eyewitness accounts describe Australian birds of prey deliberately setting wildfires by carrying burning sticks, in order to flush out prey

Ban on plastic microbeads comes into force in the UK

New Scientist - Ma, 09/01/2018 - 18:15
A UK-wide ban on the manufacture of products containing tiny pieces of plastic has come into force - but the ban on selling such products won't come in until July

Aussie flu: Just what the doctor ordered?

New Scientist - Ma, 09/01/2018 - 17:00
A really bad but not pandemic flu season could be the wake-up call the world needs

Survey reveals extreme gender bias plagues STEM – it must change

New Scientist - Ma, 09/01/2018 - 16:00
A new snapshot of women working in science and technology in the US shows deep levels of discrimination against them. It must spark action, says Lara Williams

Extreme weather in US and Australia may be due to climate change

New Scientist - Ma, 09/01/2018 - 16:00
The eastern US has shivered through freezing temperatures while Australia has sweltered in a colossal heatwave, and both events may be linked to climate change

Invasive toxic pufferfish causes havoc in European waters

New Scientist - Ma, 09/01/2018 - 14:45
A pufferfish that carries the lethal poison tetrodotoxin has entered Europe's seas, and local species are increasingly becoming poisonous as well

AI listens in on emergency calls to diagnose cardiac arrest

New Scientist - Ma, 09/01/2018 - 13:05
Identifying cardiac arrest over the phone is a tricky task, in Denmark eaves-dropping artificial intelligence is lending a helping hand

How to protect yourself from the Meltdown and Spectre bugs

New Scientist - Ma, 09/01/2018 - 13:00
After initial rumours of an Intel bug, a massive security flaw has been revealed in most computer processors leaving personal data and passwords vulnerable

With political will, we can solve the global vision crisis

New Scientist - Ma, 09/01/2018 - 10:00
Impaired sight costs the world trillions every year, but leaders with vision could deal with this under-reported and unnecessary problem

Sex tweets help track spread of sexually transmitted infections

New Scientist - Lu, 08/01/2018 - 19:00
Twitter provided a more sensitive warning signal for syphilis rates in US counties than the previous year’s disease levels

The ugly, fractured reality of the cosmos deserves our attention

New Scientist - Lu, 08/01/2018 - 15:58
A puzzling clash between perfection and imperfection in our universe is getting fresh attention. This great cosmological mystery merits it, says Geraint Lewis

Freeze-dried valves used in animal heart surgery for first time

New Scientist - Lu, 08/01/2018 - 12:20
Pieces of heart tissue can be freeze-dried, stored in plastic bags at room temperature, and later rehydrated for successful heart surgery in sheep

Fight continues over whether sex addiction is a real thing

New Scientist - Lu, 08/01/2018 - 11:30
Guidelines from the World Health Organization are being drawn up that may recognise sexual compulsivity as a mental disorder

We should teach kids how to use social media, not scare them off

New Scientist - Lu, 08/01/2018 - 11:18
A report into the social media habits of under 12s seems worrying, but children are unlikely to switch off, so they should learn how to safely navigate the online world

[Editorial] The NHS at 70 and Alma-Ata at 40

The Lancet - Sa, 06/01/2018 - 00:00
2018 welcomes two important anniversaries for health. In the UK, the National Health Service (NHS) will be 70 years old in July, and the global health community will mark the 40th anniversary of the Alma-Ata Declaration at a conference on Oct 25–26 in Almaty, Kazakhstan. Common to both anniversaries will be recognition of universal health coverage (UHC) as a goal, and the place of primary health care in achieving that goal.

[Editorial] Vision quest: gene therapy for inherited vision loss

The Lancet - Sa, 06/01/2018 - 00:00
Biomedical research and clinical trials are fundamentally high-stakes endeavours, the results of which are often portrayed in hyperbolic categories. Failed phase 3 trials are called epic disappointments, while successful treatments become game changers or magic bullets. Better still, they receive US Food and Drug Administration (FDA) approval.

[Editorial] Tuberculosis: criteria for global leadership?

The Lancet - Sa, 06/01/2018 - 00:00
Tereza Kasaeva is to be the new Director of WHO's Global Tuberculosis (TB) Programme. She joins WHO from Russia's Ministry of Health. But instead of a warm welcome, she will arrive in Geneva amid potentially disabling controversy.
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