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This was from Chris' presentation

Don't think they presented the lower signal in the brain last time. Thought that was new.

Don't forget that you're presenting in a couple of minutes!

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...