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A Genetic Test for ME/CFS?

  [ 12 votes ]   [ 3 Comments ] • October 28, 2013

Editor's Comment: A SNP (pronounced "snip") is a single variation in DNA sequencing that can help predict the severity of an illness, or how individuals may respond to treatments. This study makes the claim that 28 SNP profiles can identify patients with ME/CFS patients with 76% accuracy, which is impressive given that there are several million possible combinations. The implication of this study is that SNPs may be used to help diagnose the illness. 

Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome.

By B.N. Goertzel et al.


OBJECTIVE: This paper asks whether the presence of chronic fatigue syndrome (CFS) can be more accurately predicted from single nucleotide polymorphism (SNP) profiles than would occur by chance.

METHODS: Specifically, given SNP profiles for 43 CFS patients, together with 58 controls, we used an enumerative search to identify an ensemble of conjunctive rules that predict whether a patient has CFS.

RESULTS: The accuracy of the rules reached 76.3%, with the highest accuracy rules yielding 49 true negatives, 15 false negatives, 28 true positives and nine false positives (odds ratio [OR] 8.94, p < 0.0001). Analysis of the SNPs used most frequently in the overall ensemble of rules gave rise to a list of 'most important SNPs', which was not identical to the list of 'most differentiating SNPs' that one would calculate via studying each SNP independently. The top three genes containing the SNPs accounting for the highest accumulated importances were neuronal tryptophan hydroxylase (TPH2), catechol-O-methyltransferase (COMT) and nuclear receptor subfamily 3, group C, member 1 glucocorticoid receptor (NR3C1).

CONCLUSION: The fact that only 28 out of several million possible SNPs predict whether a person has CFS with 76% accuracy indicates that CFS has a genetic component that may help to explain some aspects of the illness.

Source: Pharmacogenomics. 2006 Apr;7(3):475-83. Goertzel BN, Pennachin C, de Souza Coelho L, Gurbaxani B, Maloney EM, Jones JF.Virginia Tech, National Capital Region, Arlington, VA, USA.

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Article Comments Post a Comment

Uses "empiric criteria" (Reeves et al., 2005) which are not good criteria
Posted by: QuayMan
Oct 28, 2013
This study uses the CDC's "empiric criteria" (Reeves et al., 2005). These are very broad criteria covering 2.54% of the population. They have been heavily criticised. People with major depression satisfy them.
Reply Reply

We cannot tell!
Posted by: IanH
Oct 28, 2013
Unfortunately they have not stated the output of SNP's involved.

eg is the snp for tryptophan hydroxylase-2 mRNA upregulated or downregulated? If it is upregulated then we expect to see more serotonin in the pathway, if it is downregulated we would expect to see less serotonin.

Without this information we cannot distinguish these results from depression and as the previous commenter said this may be partly due to diagnostics.
Reply Reply

Link to full paper
Posted by: QuayMan
Oct 29, 2013
The full text of the paper is available for free at: if anyone is interested.


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