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C F S  - Information International     
 

Genetics  in  CFS & FM

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Newest Research

Genetic profiles in severe FM and CFS, garcia-fructuoso.etal07.txt. Genetic factors may help to identify FM individuals with differentially altered frequencies of immune cells, carvalho.etal08.txt. MASP2 down-regulation may act as an anti-inflammatory acute-phase response in healthy subjects, whereas its elevated level may account for increased C4a and inflammation mediated post-exertional malaise in CFS subjects, sorensen.etal08.txt, sorensen.etal.08.txt.

Identification of marker genes for differential diagnosis of CFS, saiki.etal.08.txt, saiki.etal08.txt.

Cytokine polymorphisms have a synergistic effect on severity of the acute sickness response to infection, suggesting that genetically determined variations in the intensity of the inflammatory response underpin the severity of the acute sickness response and predict the recovery time across varied infections, vollmer-conna.etal08.txt, vollmer-conna.etal08.pdf.

Seven genomic subtypes of CFS/ME: a detailed analysis of gene networks and clinical phenotypes, kerr.etal07.txt, kerr.etal07.pdf. Gene expression subtypes in patients with CFS/ME, kerr.etal08.txt, kerr.etal.08.txt, kerr.etal08.ref.txt. kerr.etal08.tab1.txt, kerr.etal08.tab2.txt, kerr.etal08.tab3.txt, kerr.etal08.tab4.txt,  kerr.etal08.pdf. Gene profiling of patients with CFS/ME, kerr08.txt

 

Bayesian biomarker identification based on marker-expression proteomics data in CFS, bhattacharjee.etal08.pdf. A Bayesian approach to gene-gene and gene-environment interactions in CFS, lin.hsu08.txt. Integrated weighted gene co-expression network analysis with an application to CFS, presson.etal08.txt.

Genetic evaluation of the serotonergic system in CFS, smith.etal08.txt,  smith.etal08.pdf. An angiotensin-1 converting enzyme polymorphism is associated with allostatic load mediated by C-reactive protein, interleukin-6 and cortisol, smith.etal.08.txt, smith.etal.08.pdf.

Lower frequency of IL-17F sequence variant (His161Arg) in CFS,  metzger.etal08.txt, metzger.etal.08.txt, metzger.etal08.pdf.

 

Family History of CFS

Family history implicate a genetic basis for CFS,  Walsh et al., 2001.  Seing multiple family members with CFS should not surprise paediatricians, crawley.smith07.txt.

 

A genetic background is also implicated from a study on hypermobility, nijs.etal04.txt, nijs.etal04.pdf and nijs.etal06.txt. Genetic connective tissue disorder Ehlers-Danlos syndrome is associated with FM,  Rowe et al., 1999,  and genetic connective disorder hypermobile joints is correlated with juvenile CFS,  Barron et al., 2001.

 

Family findings consistent with the hypothesis that CFS represents a deregulation of the endocrine system, torres-harding.etal05.txt, torres-harding.etal05.pdf.  Unrelated household members have even higher risks of CFS, underhill.ogorman06.txt.

 

Family illnesses among people with ME/CFS: Blood versus non-blood relatives, njoku.etal08.txt, njoku.etal08.pdf.

 

Family History of FM

FM family history suggests genetic implication, arnold.etal04.txt.

 

The mode of inheritance in FM is unknown, but it is most probably polygenic, buskila.etal07.txt. There may be a genetic profile specific for chronic pain states, buskila07.txt. A study of catechol-o-methyl transferase (COMT) gene haplotypes in Mexican and Spaniard patients with FM, vargas-alarcon.etal07.txt.
 

Twin Registry

Co-morbidity in twins,  Aaron et al., 2001, and a genetic link behind chronic fatigue,  Buchwald et al., 2001.  Fatigue in the general population studied in twins,  Sullivan et al., 2003.  Using biometrical structural equation twin modeling to examine genetic and environmental influences on fatigue, schur.etal07.txt

Immune factors linked to CFS,  Sabath et al., 2002,. Fatigue have a dramatic effect on functioning in twins discordant for fatigue,  Herrell et al., 2002.  Chronic widespread pain affected general health in twins discordant for pain,  Aaron et al., 2002.  

Studies on cognitive processing in twins discordant for CFS pointed toward a shared genetic trait related to information processing, mahurin.etal04.txt,  mahurin.etal.04.txt, mahurin.etal04.pdf. Cold pressor pain sensitivity in twins discordant, ullrich.etal07.txt, ullrich.etal07.pdf.

Sweden also has a twin registry. CFS appears to be a complex trait resulting from both environmental and genetic sources of variation without pronounced differences by gender, sullivan.etal.05.txt, sullivan.etal.05.pdf.

 

Genetic Profiles

NIH on the use of blood cell genetic profiles in CFS, Vernon et al., 2002. Correlation of psycho-neuroendocrine-immune (PNI) gene expression with symptoms of acute infectious mononucleosis (CDC publication), vernon.etal05.txt. Data from the Wichita study were used by the CDC to make genetic profiles of patients, giving support to the theory of CFS subgroups, whistler.etal03.txt, whistler.etal03.pdf. Genes and exercise intolerance in CFS, whistler.etal05.txt, whistler.etal05.pdf.

 

Differential-display PCR of peripheral blood for biomarker discovery in CFS, steinau.etal04.txt, steinau.etal.04.txt. Researchers in Scotland have developed a genetic test, gene.test.UK06.txt.

 

Transcriptome analysis of peripheral blood mononuclear cells in CFS subtypes, grans.etal07.txt, grans.etal.07.txt, grans.etal07.pdf.

 

Genes studied CFS & FM

The 5-HT receptor gene polymorphism is unrelated to the etiology of FM,  Gursoy et al., 2001,   Gursoy, 2002, and  Gursoy et al., 2003.  Serotonin receptor subunit genes HTR3A and HTR3B analyzed for sequence variations in FM, frank.etal04.txt, and tander.etal07.txt.

 

CFS patients were characterized by disturbed serotonin receptor genotypes, narita.etal03.txt,  narita.etal03.pdf. 

Family members with CFS have a genetic mutation disturbing cortisol metabolism (and the HPA-axis),  Torpy, 2000.  Association between CFS and the corticosteroid-binding globulin gene ALA SER224 polymorphism, torpy.etal04.txt,  torpy.etal04.pdf.

Genes encoding for proteins in activated leucocytes have supported the theory of discrete immune disturbances in CFS, powell.etal03.txt,  powell.etal03.pdf.

Genetic defects in the GW veterans with CFS analyzed for mutations in AMPD1, DCP1, and CPT2 genes, press.vladutiu04.txt,  vladutiu.natelson04.txt, vladutiu.natelson04.pdf.

Gene expression imbalance suggests T cell activation and perturbation of neuronal and mitochondrial function, kaushik.etal05.txt, kaushik.etal05.pdf.

Gene expression profiling in CFS, grans.etal05.txt, grans.etal05.pdf.  Reduced levels of estrogen receptor {beta} mRNA in Swedish patients with CFS, grans.etal06.txt, grans.etal06.pdf. 

Australian research: Gene expression correlates with postinfective fatigue syndrome after infectious mononucleosis, cameron.etal07.txt, cameron.etal.07.txt, cameron.etal07.pdf,  press.cameron.etal07.txt.


Spanish researchers on alpha1-antitrypsin polymorphism in FM, blanco.etal06.txt, and blanco.etal07.txt. Positive association of TNF-857 and IFNgamma 874 rare alleles, carlo-stella.eta06.txt.

Pharmacogenomics on CFS and genetics, carmel.etal06.txt, craddock.etal06.txt,  fang.etal06.txt, fostel.etal06.txt, goertzel.etal06.txt, goertzel.etal06.pdf, goertzel.etal.06.txt, gurbaxani.etal06.txt, maloney.etal06.txt, smith.etal06.txt, vernon.reeves06.txt, vernon.reeves.06.txt, vollmer-conna.etal06.txt, vollmer-conna.etal.06.txt, whistler.etal06.txt, whistler.etal06.pdf, witkowski06.txt. This issue was widely broadcasted and discussed in the media, editorial.genes06.txt, editorial.genes.06.txt.

HLA Types

HLA subtype HLA-DQ1 antigen increased in patients with CFS, schacterle.etal04.txt, schacterle.etal04.pdf.  Another study also found CFS associated with HLA-DQA1*01, smith.etal05.txt, smith.etal05.pdf. 

 

 

 


 

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Mette Marie Andersen, MD