ME Research Review have an article on Oxford-based tech company PrecisionLife who claim to have identified 14 genetic markers for ME/CFS in a pre-publication report. The paper has been submitted to a scientific journal and is being considered for publication. The full review can be read from the link below.
Extracts
PrecisionLife uses a technique called combinatorial analysis. Big DNA studies look for differences in single DNA’ letters’, called single nucleotide polymorphisms or SNPs, pronounced “snips”. But PrecisionLife looks for combinations of these differences. They call these combinations disease signatures.
Big DNA studies look at SNPs one by one. Combinatorial analysis looks for combinations of SNPs, which should make it easier to find links to disease.,
The study looked at DNA data from nearly 2,400 people in the UK Biobank who reported in a questionnaire that a doctor had diagnosed them with ME or CFS. The analysis found 84 statistically significant disease signatures. Each was a combination of three to five SNPs, and 199 different SNPs were involved altogether.
Of the 199, the researchers focused on 25 critical SNPs that appeared in many different disease signatures. The research team used the critical SNPs to identify14 genes connected with ME.
Professor Chris Ponting said he was very interested in these findings. He also said the ME/CFS gene variants identified in this study would “need further genetic support from more conventional studies such as genome-wide association studies”.
As an alternative, he said, he’d like to see if “PrecisionLife’s method can validate the same combinations of DNA variants in independent cohorts of people with ME”.
Happily, DecodeME is already collecting data for a large DNA study, which might confirm some of the genetic links identified here.
And PrecisionLife is in discussions with DecodeME about its own analysis of DecodeME data. DecodeME can provide larger samples with a more accurate diagnosis of ME/CFS.
The next critical step is confirmation of these remarkable findings. It could come as soon as next year, depending on DecodeME data availability. And if it does, it will be very good news for people with ME.