ME and CFS Medical Abnormalities – Other Genetics

 

Following is a list of articles about other genetics found to be associated with ME and CFS.

Links to the more than 1,000 peer-reviewed journal articles are listed on the ME and CFS Medical Abnormalities page of this website.

 

Yang CA, Bauer S, Ho YC, Sotzny F, Chang JG, Scheibenbogen C. The expression signature of very long non-coding RNA in myalgic encephalomyelitis/chronic fatigue syndrome. J Transl Med. 2018 Aug 17;16(1):231. PMID: 30119681

This study revealed a ME/CFS-associated very long lncRNA expression signature, which might reflect the regulatory response in ME/CFS patients to oxidative stress, chronic viral infection and hypoxemia.

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Trivedi MS, Oltra E, Sarria L, Rose N, Beljanski V, Fletcher MA, Klimas NG, Nathanson L. Identification of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome-associated DNA methylation patterns. PLoS One. 2018 Jul 23;13(7):e0201066. PMID: 30036399

This is the first study that has explored genome-wide epigenetic changes associated with ME/CFS using the advanced Illumina Methylation EPIC microarrays covering about 850,000 CpG sites in two geographically distant cohorts of ME/CFS cases and matched controls. Our results are aligned with previous studies that indicate a dysregulation of the immune system in ME/CFS.

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Schoeman EM, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles CV, Al-Ali S, Ng WF, Taylor RW, Newton JL, Elson JL. Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome. BMC Med Genet. 2017 Mar 16;18(1):29. PMID: 28302057

There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. The authors report the complete mtDNA sequence of 93 CFS patients from the UK and RSA, without finding evidence of clinically proven mtDNA mutations. This finding demonstrates that clinically proven mtDNA mutations are not a common element in the aetiology of disease in CFS patients.

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Wang T, Yin J, Miller AH, Xiao C. A systematic review of the association between fatigue and genetic polymorphisms. Brain Behav Immun. 2017 May;62:230-244. PMID: 28089639

To investigate the association of SNPs with fatigue in various patient populations, a systematic search was conducted on Pubmed, CINAHL, PsycINFO, and Sociological Abstracts Database for fatigue related-terms in combination with polymorphisms or genetic variation-related terms. Fifty papers in total met the inclusion and exclusion criteria for this analysis. These 50 papers were further classified into three subgroups for evaluation: chronic fatigue syndrome (CFS), cancer-related fatigue (CRF) and other disease-related fatigue. SNPs in regulatory pathways of immune and neurotransmitter systems were found to play important roles in the etiologies of CFS, CRF and other disease-related fatigue. Evidence for associations between elevated fatigue and specific polymorphisms in TNFα, IL1b, IL4 and IL6 genes was revealed for all three subgroups of fatigue. We also found CFS shared a series of polymorphisms in HLA, IFN-γ, 5-HT and NR3C1 genes with other disease-related fatigue, however these SNPs (excluding IFN-γ) were not found to be adequately investigated in CRF.

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de Vega WC, Herrera S, Vernon SD, McGowan PO. Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). BMC Med Genomics. 2017 Feb 23;10(1):11. PMID: 28231836

The authors examined the DNA methylome in peripheral blood mononuclear cells (PBMCs) of a larger cohort of female ME/CFS patients using the Illumina HumanMethylation450 BeadChip Array. Results indicate DNA methylation modifications in cellular metabolism in ME/CFS despite a heterogeneous patient population, implicating these processes in immune and HPA axis dysfunction in ME/CFS. Modifications to epigenetic loci associated with differences in glucocorticoid sensitivity may be important as biomarkers for future clinical testing.

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Johnston S, Staines D, Klein A, Marshall-Gradisnik S. A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis. BMC Med Genet. 2016 Nov 11;17(1):79. PMID: 27835969

This study examined candidate genes to identify single nucleotide polymorphism (SNP) alleles associated with CFS/ME compared with healthy controls. After applying FDR and Bonferroni corrections, SNP rs2322333 in adrenergic receptor α1 (ADRA1A) was higher in CFS/ME compared with healthy controls. The genotype class that was homozygous minor (AA) was substantially lower in CFS/ME compared with healthy controls.

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Marshall-Gradisnik S, Johnston S, Chacko A, Nguyen T, Smith P, Staines D. Single nucleotide polymorphisms and genotypes of transient receptor potential ion channel and acetylcholine receptor genes from isolated B lymphocytes in myalgic encephalomyelitis/chronic fatigue syndrome patients. J Int Med Res. 2016 Dec;44(6):1381-1394. PMID: 27834303

This preliminary investigation identified a number of SNPs and genotypes in genes encoding TRP ion channels and AChRs from B cells in patients with CFS/ME. These may be involved in B cell functional changes, and suggest a role for Ca2+ dysregulation in AChR and TRP ion channel signalling in the pathomechanism of CFS/ME.

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Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. Genet Mol Res. 2016 Jul 29;15(3). PMID: 27525900

The aim of this study was to look for evidence of genotype-associated excessive muscle fatigue. Three metabolic genes (AMPD1, CPT2, and PYGM) were therefore fully sequenced in 17 Italian patients with CFS. We examined polymorphisms known to alter the function of these metabolic genes, and compared their genotypic distributions in CFS patients and 50 healthy controls using chi-square tests and odds ratios. No major genetic variations between patients and controls were found in the three genes studied, and we did not find any association between these genes and CFS. In conclusion, variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of CFS.

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Schlauch KA, Khaiboullina SF, De Meirleir KL, Rawat S, Petereit J, Rizvanov AA, Blatt N, Mijatovic T, Kulick D, Palotás A,Lombardi VC. Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome. Transl Psychiatry. 2016 Feb 9;6: PMID: 26859813

The authors used a DNA single-nucleotide polymorphism (SNP) chip representing over 906,600 known SNPs to analyze DNA from ME/CFS subjects and healthy controls. Twelve SNPs were identified in the coding region of their respective gene.

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Billing-Ross P, Germain A, Ye K, Keinan A, Gu Z, Hanson MR. Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome. J Transl Med. 2016 Jan 20;14(1):19. PMID: 26791940

Analysis of mitochondrial genomes in ME/CFS cases indicates that individuals of a certain haplogroup or carrying specific SNPs are more likely to exhibit certain neurological, inflammatory, and/or gastrointestinal symptoms.

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Meyer B, Nguyen CB, Moen A, Fagermoen E, Sulheim D, Nilsen H, Wyller VB, Gjerstad J. Maintenance of Chronic Fatigue Syndrome (CFS) in Young CFS Patients Is Associated with the 5-HTTLPR and SNP rs25531 A > G Genotype. PLoS One. 2015 Oct 16;10(10):e0140883. PMID: 26473596

CFS patients with the 5-HTT SS or SLG genotype had worse 30 weeks outcome than CFS patients with the 5-HTT LALG, SLA or LALA genotype. The 5-HTT genotype may be a factor that contributes to maintenance of CFS.

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Löbel M, Mooslechner AA, Bauer S, Günther S, Letsch A, Hanitsch LG, Grabowski P, Meisel C, Volk HD, Scheibenbogen C. Polymorphism in COMT is associated with IgG3 subclass level and susceptibility to infection in patients with chronic fatigue syndrome. J Transl Med. 2015 Aug 14;13:264. PMID: 26272340

The study results indicate a relationship of COMT polymorphism rs4680 with immune dysregulation in CFS providing a potential link for the association between stress and infection susceptibility in CFS.

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Rajeevan MS, Dimulescu I, Murray J, Falkenberg VR, Unger ER. Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome. Hum Immunol. 2015 Aug;76(8):553-60. PMID: 26116897

CFS was associated with 32 functionally important single nucleotide polymorphisms(SNPs): 11 missense variants, 4 synonymous variants, 11 untranslated regulatory region (UTR) variants and 6 intronic variants. Of particular interest is association of CFS with two missense variants in genes of complement activation, rs4151667 (L9H) in CFB and rs1061170 (Y402H) in CFH. A 5′ UTR polymorphism (rs11214105) in IL18 also associated with physical fatigue, body pain and score for CFS case defining symptoms.

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Iacob E, Light AR, Donaldson GW, Okifuji A, Hughen RW, White AT, Light KC. Gene Expression Factor Analysis to Differentiate Pathways Linked to Fibromyalgia, Chronic Fatigue Syndrome, and Depression in a Diverse Patient Sample. Arthritis Care Res (Hoboken). 2016 Jan;68(1):132-40. PMID: 26097208

Expression of candidate genes can be grouped into meaningful clusters, and CFS and depression are associated with the same 2 clusters, but in opposite directions, when controlling for comorbid fibromyalgia.

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Shimosako N, Kerr JR. Use of single-nucleotide polymorphisms (SNPs) to distinguish gene expression subtypes of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). J Clin Pathol. 2014 Dec;67(12):1078-83. PMID: 25240059

This study provides evidence that human SNPs located within CFS/ME associated genes are associated with particular genomic subtypes of CFS/ME. Further work is required to develop this into a clinically useful subtype-specific diagnostic test.

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Brenu EW, Ashton KJ, Batovska J, Staines DR, Marshall-Gradisnik SM. High-throughput sequencing of plasma microRNA in chronic fatigue syndrome/myalgic encephalomyelitis. PLoS One. 2014 Sep 19;9(9):e102783. PMID: 25238588

The authors identified 19 miRNAs that were differentially expressed in the plasma of CFS/ME patients in comparison to non-fatigued controls. Following RT-qPCR analysis, they confirmed the significant up-regulation of three miRNAs (hsa-miR-127-3p, hsa-miR-142-5p and hsa-miR-143-3p) in the CFS/ME patients.

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de Vega WC, Vernon SD, McGowan PO. DNA methylation modifications associated with chronic fatigue syndrome. PLoS One. 2014 Aug 11;9(8):e104757. PMID: 25111603

The authors found an increased abundance of differentially methylated genes related to the immune response, cellular metabolism, and kinase activity. Genes associated with immune cell regulation, the largest coordinated enrichment of differentially methylated pathways, showed hypomethylation within promoters and other gene regulatory elements in CFS. These data are consistent with evidence of multisystem dysregulation in CFS and implicate the involvement of DNA modifications in CFS pathology.

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Cifuentes RA, Barreto E. Supervised selection of single nucleotide polymorphisms in chronic fatigue syndrome. Biomedica. 2011 Oct-Dec;31(4):613-21.PMID: 22674373

The researchers created a valid profile of polymorphisms for CFS, including two known polymorphisms associated with chronic fatigue syndrome, the NR3C1_11159943 major allele and the 5HTT_7911132 minor allele.

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Light KC, White AT, Tadler S, Iacob E, Light AR. Genetics and Gene Expression Involving Stress and Distress Pathways in Fibromyalgia with and without Comorbid Chronic Fatigue Syndrome. Pain Res Treat. 2012;2012:427869. PMID: 22110941

This paper summarizes research on genes that may be linked to increased susceptibility in developing and maintaining CFS and fibromyalgia, and research on resting and stressor-evoked changes in leukocyte gene expression, highlighting physiological pathways linked to stress and distress. These include the adrenergic nervous system, the hypothalamic-pituitary-adrenal axis and serotonergic pathways, and exercise responsive metabolite-detecting ion channels. The findings to date provide some support for both inherited susceptibility and/or physiological dysregulation in all three systems, particularly for catechol-O-methyl transferase (COMT) genes, the glucocorticoid and the related mineralocorticoid receptors (NR3C1, NR3C2), and the purinergic 2X4 (P2X4) ion channel involved as a sensory receptor for muscle pain and fatigue and also in upregulation of spinal microglia in chronic pain models.

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Sommerfeldt L, Portilla H, Jacobsen L, Gjerstad J, Wyller VB. Polymorphisms of adrenergic cardiovascular control genes are associated with adolescent chronic fatigue syndrome. Acta Paediatr. 2011 Feb;100(2):293-8. PMID: 21059181

CFS patients were especially likely to have a number of specific genes, suggesting that CFS might be related to polymorphisms of COMT and the β₂ -adrenergic receptor.

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Smith AK, Fang H, Whistler T, Unger ER, Rajeevan MS. Convergent Genomic Studies Identify Association of GRIK2 and NPAS2 with Chronic Fatigue Syndrome. Neuropsychobiology. 2011;64(4):183-94. PMID: 21912186

Using an integrated genomic strategy, this study suggests a possible role for genes involved in glutamatergic neurotransmission and circadian rhythm in CFS and supports further study of novel candidate genes in independent populations of CFS subjects.

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Falkenberg VR, Whistler T, Murray JR, Unger ER, Rajeevan MS. Identification of Phosphoglycerate Kinase 1 (PGK1) as a Reference Gene for Quantitative Gene Expression Measurements in Human Blood RNA. BMC Res Notes. 2011 Sep 6;4(1):324. PMID: 21896205

Reference genes that may be suitable for the analysis of CFS, or human blood RNA derived from whole blood as well as isolated peripheral blood mononuclear cells (PBMCs), have not previously been described. The authors identified PGK1 as a stable reference gene for use with whole blood RNA and RNA.

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Sommerfeldt L, Portilla H, Jacobsen L, Gjerstad J, Wyller VB. Polymorphisms of adrenergic cardiovascular control genes are associated with adolescent chronic fatigue syndrome. Acta Paediatr. 2011 Feb;100(2):293-8. PMID: 21059181

CFS patients were especially likely to have a number of specific genes, suggesting that CFS might be related to polymorphisms of COMT and the β₂ -adrenergic receptor.

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Falkenberg VR, Gurbaxani BM, Unger ER, Rajeevan MS. Functional Genomics of Serotonin Receptor 2A (HTR2A): Interaction of Polymorphism, Methylation, Expression and Disease Association. Neuromolecular Med. 2011 Mar;13(1):66-76. PMID: 20941551

This study of CFS patients suggests that the promoter polymorphism (rs6311) can affect both transcription factor binding and promoter methylation, and this along with an individual’s stress response can impact the rate of HTR2A transcription in a genotype and methylation-dependent manner.

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Fukuda S, Hashimoto R, Ohi K, Yamaguti K, Nakatomi Y, Yasuda Y, Kamino K, Takeda M, Tajima S, Kuratsune H, Nishizawa Y, Watanabe Y. A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome. Life Sci. 2010 May 8;86(19-20):722-5. PMID: 20227423

The Cys704 allele of Ser704Cys SNP was associated with an increased risk of CFS development compared with the Ser704 allele.

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Landmark-Høyvik H, Reinertsen KV, Loge JH, Kristensen VN, Dumeaux V, Fosså SD, Børresen-Dale AL, Edvardsen H. The genetics and epigenetics of fatigue. PM R. 2010 May;2(5):456-65. PMID: 20656628

A systems biology approach that includes environmental influences needs to be taken in order to look at the role of genetics in CFS.

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Zhang L, Gough J, Christmas D, Mattey DL, Richards SC, Main J, Enlander D, Honeybourne D, Ayres JG, Nutt DJ, Kerr JR. Microbial infections in eight genomic subtypes of chronic fatigue syndrome/myalgic encephalomyelitis. J Clin Pathol. 2010 Feb;63(2):156-64. PMID: 19955554

Specific genotypes are associated with CFS.

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Huang LC, Hsu SY, Lin E. A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data. J Transl Med. 2009 Sep 22;7:81. PMID:19772600

The authors compared computational tools with and without feature selection for predicting chronic fatigue syndrome (CFS) using genetic factors such as single nucleotide polymorphisms (SNPs).

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Gow JW, Hagan S, Herzyk P, Cannon C, Behan PO, Chaudhuri A. A gene signature for post-infectious chronic fatigue syndrome. BMC Med Genomics. 2009 Jun 25;2:38. PMID: 19555476

Differentially expressed genes in CFS suggest problems with immune modulation, oxidative stress and apoptosis.  These may have the potential of serving as biomarkers for the disease.

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Byrnes A, Jacks A, Dahlman-Wright K, Evengard B, Wright FA, Pedersen NL, Sullivan PF Gene expression in peripheral blood leukocytes in monozygotic twins discordant for chronic fatigue: no evidence of a biomarker. PLoS One. 2009 Jun 5;4(6):e5805. PMID: 19503787

The authors were unable to identify a biomarker for chronic fatiguing illness in the transcriptome of peripheral blood leukocytes.

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Lin E, Hsu SY. A Bayesian approach to gene-gene and gene-environment interactions in chronic fatigue syndrome. Pharmacogenomics. 2009 Jan;10(1):35-42. PMID: 19102713

The Bayesian based approach is a promising method to assess the gene-gene and gene-environment interactions in chronic fatigue syndrome patients by using genetic factors, such as SNPs, and demographic factors such as age, gender and BMI.

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Saiki T, Kawai T, Morita K, Ohta M, Saito T, Rokutan K, Ban N. Identification of marker genes for differential diagnosis of chronic fatigue syndrome. Mol Med. 2008 Sep-Oct;14(9-10):599-607. PMID: 18596870

A defined gene cluster (9 genes) may be useful for detecting pathological responses in CFS patients and for differential diagnosis of this syndrome.

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Kerr JR. Gene profiling of patients with chronic fatigue /myalgic encephalomyelitis. Curr Rheumatol Rep. 2008 Dec;10(6):482-91. PMID: 19007540

A total of 88 human genes were upregulated or downregulated in CFS patients, including those related to hematologic function, immunologic function, cancer, cell death, immune response and infection.

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Presson AP, Sobel EM, Papp JC, Suarez CJ, Whistler T, Rajeevan MS, Vernon SD, Horvath S. Integrated weighted gene co-expression network analysis with an application to chronic fatigue syndrome. BMC Syst Biol. 2008 Nov 6;2:95. PMID: 18986552

A systems biology approach was used to create a module of 299 highly correlated genes associated with CFS severity.

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Kerr JR, Petty R, Burke B, Gough J, Fear D, Sinclair LI, Mattey DL, Richards SC, Montgomery J, Baldwin DA, Kellam P, Harrison TJ, Griffin GE, Main J, Enlander D, Nutt DJ, Holgate ST. Gene expression subtypes in patients with chronic fatigue syndrome/myalgic encephalomyelitis. J Infect Dis. 2008 Apr 15;197(8):1171-84. PMID: 18462164

The researchers analyzed gene expression in peripheral blood from 25 patients with CFS.

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Kerr JR, Burke B, Petty R, Gough J, Fear D, Mattey DL, Axford JS, Dalgleish AG, Nutt DJ. Seven genomic subtypes of chronic fatigue syndrome/myalgic encephalomyelitis: a detailed analysis of gene networks and clinical phenotypes. J Clin Pathol. 2008 Jun;61(6):730-9. PMID: 18057078

Clustering of quantitative PCR (qPCR) data from patients with CFS revealed seven distinct subtypes.

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Smith AK, Dimulescu I, Falkenberg VR, Narasimhan S, Heim C, Vernon SD, Rajeevan MS. Genetic evaluation of the serotonergic system in chronic fatigue syndrome. Psychoneuroendocrinology. 2008 Feb;33(2):188-97. PMID: 18079067

Sequence variation in HTR2A, related to serotonin, may potentially result in its enhanced activity and thus be involved in the pathophysiology of CFS.

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Kawai T, Rokutan K. Identification and application of marker genes for differential diagnosis of chronic fatigue syndrome. Nihon Rinsho. 2007 Jun;65(6):1029-33. PMID: 17561693

The authors identified 9 genes that were significantly and differentially expressed between CFS patients and healthy subjects.

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Narita M, Narita N. Genetic background of chronic fatigue syndrome. Nihon Rinsho. 2007 Jun;65(6):997-1002. PMID: 17561688

A significant increase of longer (L and XL) alleic variants for serotonin transporter was found in the CFS patients compared to the controls. Compared to S allele, the L allele is believed to retain higher transcriptional activity, which causes decreased concentration of serotonin in the extracellular space, namely, active serotonin in CFS.

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Rajeevan MS, Smith AK, Dimulescu I, Unger ER, Vernon SD, Heim C, Reeves WC. Glucocorticoid receptor polymorphisms and haplotypes associated with chronic fatigue syndrome. Genes Brain Behav. 2007 Mar;6(2):167-76. PMID: 16740143

The authors observed an association of multiple SNPs with chronic fatigue compared to non-fatigued (NF) subjects.

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Fang H, Xie Q, Boneva R, Fostel J, Perkins R, Tong W. Gene expression profile exploration of a large dataset on chronic fatigue syndrome. Pharmacogenomics. 2006 Apr;7(3):429-40. PMID: 16610953

In a population of CFS sufferers, researchers identified 24 common genes and 11 common pathways.

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Whistler T, Taylor R, Craddock RC, Broderick G, Klimas N, Unger ER. Gene expression correlates of unexplained fatigue. Pharmacogenomics. 2006 Apr;7(3):395-405. PMID: 16610950

A total of 839 genes were statistically associated with fatigue measures. These mapped to biological pathways such as oxidative phosphorylation, gluconeogenesis, lipid metabolism, and several signal transduction pathways. The study supports the use of phenotypic measures of CFS and QTA as important for additional studies of this complex illness.

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Vernon SD, Whistler T, Aslakson E, Rajeevan M, Reeves WC. Challenges for molecular profiling of chronic fatigue syndrome. Pharmacogenomics. 2006 Mar;7(2):211-8. PMID: 16515400

The peripheral blood appears to be facilitating the molecular profiling of several diseases, such as CFS, that involve bodywide perturbations that are mediated by the CNS.

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Goertzel BN, Pennachin C, de Souza Coelho L, Gurbaxani B, Maloney EM, Jones JF. Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome. Pharmacogenomics. 2006 Apr;7(3):475-83. PMID: 16610957

The authors suggest that 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.

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Kaushik N, Fear D, Richards SC, McDermott CR, Nuwaysir EF, Kellam P, Harrison TJ, Wilkinson RJ, Tyrrell DA, Holgate ST, Kerr JR. Gene expression in peripheral blood mononuclear cells from patients with chronic fatigue syndrome. J Clin Pathol. 2005 Aug;58(8):826-32. PMID: 16049284

CFS patients showed gene upregulations typical of T cell activation and perturbation of neuronal and mitochondrial function.

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Vernon SD, Reeves WC. Evaluation of autoantibodies to common and neuronal cell antigens in Chronic Fatigue Syndrome. J Autoimmune Dis. 2005 May 25;2:5. PMID: 15916704

Subsets of those with CFS had higher rates of antibodies to microtubule-associated protein 2 (MAP2) and ssDNA. There was no evidence of higher rates for several common nuclear and cellular antigens in people with CFS.

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Torpy DJ, Bachmann AW, Gartside M, Grice JE, Harris JM, Clifton P, Easteal S, Jackson RV, Whitworth JA. Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. Endocr Res. 2004 Aug;30(3):417-29. PMID: 15554358

Homozygosity for the serine allele of the CBG gene may predispose to CFS, perhaps due to an effect on hypothalamic-pituitary-adrenal axis function related to altered CBG-cortisol transport function or immune-cortisol interactions.

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Whistler T, Unger ER, Nisenbaum R, Vernon SD. Integration of gene expression, clinical, and epidemiologic data to characterize Chronic Fatigue Syndrome. J Transl Med. 2003 Dec 1;1(1):10. PMID: 14641939

Differentially expressed genes in CFS were involved in pathways of purine and pyrimidine metabolism, glycolysis, oxidative phosphorylation, and glucose metabolism.

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Powell R, Ren J, Lewith G, Barclay W, Holgate S, Almond J. Identification of novel expressed sequences, up-regulated in the leucocytes of chronic fatigue syndrome patients. Clin Exp Allergy. 2003 Oct;33(10):1450-6. PMID: 14519154

The identification of novel gene tags up-regulated in CFS patients suggests that CFS is a disease characterized by subtle changes in the immune system.

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Vernon SD, Unger ER, Dimulescu IM, Rajeevan M, Reeves WC. Utility of the blood for gene expression profiling and biomarker discovery in chronic fatigue syndrome. Dis Markers. 2002;18(4):193-9. PMID: 12590173

Several of the differentially expressed genes are associated with immunologic functions (e.g., CMRF35 antigen, IL-8, HD protein) and implicate immune dysfunction in the pathophysiology of CFS.

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Vernon SD, Shukla SK, Conradt J, Unger ER, Reeves WC. Analysis of 16S rRNA gene sequences and circulating cell-free DNA from plasma of chronic fatigue syndrome and non-fatigued subjects. BMC Microbiol. 2002 Dec 23;2:39. PMID:12498618

CFS subjects had slightly lower concentrations or no detectable plasma DNA than non-fatigued subjects. There was a diverse array of 16S rDNA sequences in plasma DNA from both CFS and non-fatigued subjects. There were no unique, previously uncharacterized or predominant 16S rDNA sequences in either CFS or non-fatigued subjects.

 

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