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Perhaps it's just that DecodeME on its own didn't have the precision to pinpoint BTN2A1, it's only with the DecodeME PheWAS of rare variants that it became a likely candidate. He talked about BTN2A1 during the presentation.

Looks like Qiang Yu and collaegues updated the interpretation of their Diffusion-based neuroinflammation imaging (NII)

Paolo's meta-analysis also found glutamatergic synapses to be significant

The meta-analysis only has three significant hits left, but includes one on chromosome 2 that we haven't discussed much because it only reached 10^-6 levels in DecodeME. Potential genes are: UGP2: converts glucose into UDP-glucose. The short form is primarily located in the brain. VPS54...

He also refers to Paolo Maccalini's meta-analysis of DecodeME with results from other genetic databases. Not sure if we discussed this before. Looks like impressive work from Paolo. https://github.com/paolomaccallini-hub/MetaME

Made a thread on the Astrazeneca analysis here: https://www.s4me.info/threads/astrazeneca-phewas-analysis-using-the-uk-biobank.50076/

If we focus on the ME/CFS category that had the clearest result: 8 out of 2547 (0.31%) had one of the mutations that disrupted BTN2A1. But this was significantly more than the 50/121,923 (0.04%) in the control group. This page shows the DNA mutations...

There are multiple ways to identify ME/CFS patients in the UK Biobank, as explained in this paper: Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank - PMC Looks like there was also an increased odds ratio for BTN2A1 in the G93.3 ICD diagnosis...

The methods of the Astrazeneca analysis are explained in this 2021 paper: Wang et al. 2021. Rare variant contribution to human disease in 281,104 UK Biobank exomes | Nature

Chris Ponting mentioned this in this thread: https://www.s4me.info/threads/genetics-chromosome-6-btn2a2-and-btn3a3-btn2a1.45503/post-689176 The result can be viewed here...

Would be my guess: there are many more ways to mess things up than ways to make something work. But you're right that we're not sure of this.

What I don't quite get: ME/CFS symptoms suggest a disease of T-cell activation BTN2A1 is involved in activating the T-cell ME/CFS patients are more likely to have defective BTN2A1 So that doesn't fit with T-cells being overactive after all? Rather it suggests that at certain times the T-cells...

That's really interesting, thanks. Perhaps someone should make a separate thread on this? There are multiple ways to identify ME/CFS patients in the UK biobank as explained here: Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank - PMC Looks like...

Older study from 2007, some quotes that might be relevant to ME/CFS research:

Abstract Whereas biomedical products are required to be tested for safety with respect to vulnerable organ systems, psychosocial treatments are not required to be tested for safety with respect to vulnerable social systems such as the family. This article provides some evidence for the need to...

As I understand it, the consortium leaders are the problem. Think there was some reasonable biomedical research under this project but wonder how those researchers think about the statements by Liira that they pretty much found nothing. That didn't sound very respectful. It's not that you'll...

You can find that progress report on this page: https://cordis.europa.eu/project/id/101057553/results Decision support for prediction and management of Long Covid Syndrome (LCS) -> Results -> Deliverables -> Documents, reports (12) -> Results of the AIR trial.

No the progress report was submitted to the EU last year already. I just had a closer look at it following the protest and then the statements made in the article in L'Express.