Genetics of chronic fatigue syndrome

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The genetics of chronic fatigue syndrome is an area of research as ME/CFS has been observed in families.[1] It is unknown if there is a genetic link or common environmental exposure (infectious or toxic). Studies of twins show higher rates of ME/CFS in identical than fraternal twins. The Centers for Disease Control and Prevention (CDC) notes that specific genetic associations have not been established.[1]

ME/CFS Gene Study[edit | edit source]

The ME/CFS Gene Study is still collecting data, but the initial pilot study by Perez et al. (2019) found 10 relatively common genes or gene variants were significantly more common in people with ME/CFS.[2] These were CYP2D6, PRRT4, PRSS56, C14orf37, ANKDD1B, GPBAR1, LHB, ADAMTS19, VARS2, and CPLX2.[2]

Utah Population Database study[edit | edit source]

A 2011 study by Albright et al showed evidence of a heritable contribution to chronic fatigue syndrome (CFS).[3] Using the extensive records of the Utah Population Database (UPDB), the study "shows clear evidence of significant excess familial clustering and significantly elevated risks for CFS among first, second, and third degree relatives of CFS cases. The results strongly support a genetic contribution to predisposition to CFS as it is currently defined and diagnosed by clinicians in Utah." Increased outbreak rates in first degree relatives are not automatically assumed to be genetic because the first degree relatives often share the same lifestyle and environment. However, a significantly increased incidence (95% confidence interval) in second and third degree relatives strongly indicated a genetic contribution to CFS, given the much lower likelihood of these relatives sharing common risks and environments.[3]

Albright,2011 study

Family history and twin studies[edit | edit source]

A 2001 study in the UK showed "there were significantly higher rates of CFS in the relatives of CFS cases compared with the relatives of control subjects."[4] Three twin studies (one in Australia, one in Washington, US, both in 2001, and one in the UK in 2007) showed that the correlations for prolonged and chronic fatigue were significantly higher in monozygotic than dizygotic twins for each definition of chronic fatigue syndrome.[5][6][7]

Haplogroups[edit | edit source]

One study showed that patients with mitochondrial DNA from certain haplogroups correlated with variations in gastrointestinal, neurological, and inflammatory symptoms.[8]

HLA alleles[edit | edit source]

Human leukocyte antigen genes associations were investigated by Lande et al. (2020) because these gene variants are considered hallmarks for autoimmune disease; two HLA associations were found to be more common in ME/CFS patients, but the majority of ME/CFS patients did not have these.[9]

Notable studies[edit | edit source]

Media Coverage[edit | edit source]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

  1. 1.01.1 "Etiology and Pathophysiology | Presentation and Clinical Course | Healthcare Providers | Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) | CDC". www.cdc.gov. Nov 8, 2018. Retrieved Feb 8, 2019. 
  2. 2.02.12.2 Nathanson, Lubov; Craddock, Travis J. A.; Klimas, Nancy G.; Gemayel, Kristina; Del Alamo, Ana; Hilton, Kelly; Jaundoo, Rajeev; Perez, Melanie (2019). "Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study". Frontiers in Pediatrics. 7. doi:10.3389/fped.2019.00206. ISSN 2296-2360. 
  3. 3.03.13.2 Albright, Frederick; Light, Kathleen; Light, Alan; Bateman, Lucinda; Cannon-Albright, Lisa A (2011), "Evidence for a heritable predisposition to Chronic Fatigue Syndrome", BMC Neurology, 11 (62), doi:10.1186/1471-2377-11-62 
  4. Walsh, C. M.; Zainal, N. Z.; Middleton, S. J.; Paykel, E. S. (Sep 2001). "A family history study of chronic fatigue syndrome". Psychiatric Genetics. 11 (3): 123–128. doi:10.1097/00041444-200109000-00003. ISSN 0955-8829. 
  5. 5.05.1 Buchwald, D.; Herrell, R.; Ashton, S.; Belcourt, M.; Schmaling, K.; Sullivan, P.; Neale, M.; Goldberg, J. (2001), "A twin study of chronic fatigue.", Psychosomatic Medicine, 63 (6): 936-943, PMID 11719632 
  6. Hickie, IB; Bansal, AS; Kirk, KM; Lloyd, AR; Martin, NG (2001), "A twin study of the etiology of prolonged fatigue and immune activation", Twin Research, 4 (2): 94-102, doi:10.1375/1369052012209 
  7. Schur, Ellen; Afari, Niloofar; Goldberg, Jack; Buchwald, Dedra; Sullivan, Patrick F. (2007), "Twin analyses of fatigue", Twin Research and Human Genetics, 10 (5): 729-733, doi:10.1375/twin.10.5.729 
  8. 8.08.1 Billing-Ross, Paul; Germain, Arnaud; Ye, Kaixiong; Keinan, Alon; Gu, Zhenglong; Hanson, Maureen R. (Jan 20, 2016). "Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome". Journal of Translational Medicine. 14 (1): 19. doi:10.1186/s12967-016-0771-6. ISSN 1479-5876. 
  9. 9.09.1 Lande, Asgeir; Fluge, Øystein; Strand, Elin B.; Flåm, Siri T.; Sosa, Daysi D.; Mella, Olav; Egeland, Torstein; Saugstad, Ola D.; Lie, Benedicte A. (Mar 24, 2020). "Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)". Scientific Reports. 10 (1): 1–8. doi:10.1038/s41598-020-62157-x. ISSN 2045-2322. 
  10. Goertzel, Benjamin N.; Pennachin, Cassio; de Souza Coelho, Lucio; Gurbaxani, Brian; Maloney, Elizabeth M.; Jones, James F. (April 2006). "Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome". Pharmacogenomics. 7 (3): 475–483. doi:10.2217/14622416.7.3.475. ISSN 1462-2416. PMID 16610957. 
  11. Light, A. R.; Bateman, L.; Jo, D.; Hughen, R. W.; VanHaitsma, T. A.; White, A. T.; Light, K. C. (Jul 13, 2011). "Gene expression alterations at baseline and following moderate exercise in patients with Chronic Fatigue Syndrome and Fibromyalgia Syndrome". Journal of Internal Medicine. 271 (1): 64–81. doi:10.1111/j.1365-2796.2011.02405.x. ISSN 0954-6820. PMC 3175315Freely accessible. PMID 21615807. 
  12. Schlauch, Karen A.; Khaiboullina, Svetlana F.; De Meirleir, Kenny L.; Rawat, Shanti; Petereit, J; Rizvanov, Albert A; Blatt, Nataliya; Mijatovic, Tatjana; Kulick, D; Palotás, András; Lombardi, Vincent C. (2016), "Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome", Translational Psychiatry, 6 (2): e730, doi:10.1038/tp.2015.208 
  13. Trivedi, Malav S.; Oltra, Elisa; Sarria, Leonor; Rose, Natasha; Beljanski, Vladimir; Fletcher, Mary Ann; Klimas, Nancy G.; Nathanson, Lubov (2018). "Identification of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome-associated DNA methylation patterns". PloS One. 13 (7): e0201066. doi:10.1371/journal.pone.0201066. ISSN 1932-6203. PMID 30036399. 
  14. Herrera, Santiago; de Vega, Wilfred C.; Ashbrook, David; Vernon, Suzanne D.; McGowan, Patrick O. (Dec 5, 2018). "Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome". Epigenetics: 1–17. doi:10.1080/15592294.2018.1549769. ISSN 1559-2308. PMID 30516085. 
  15. Nguyen, Chinh Bkrong; Kumar, Surendra; Zucknick, Manuela; Kristensen, Vessela N.; Gjerstad, Johannes; Nilsen, Hilde; Wyller, Vegard Bruun (Feb 2019). "Associations between clinical symptoms, plasma norepinephrine and deregulated immune gene networks in subgroups of adolescent with Chronic Fatigue Syndrome". Brain, Behavior, and Immunity. 76: 82–96. doi:10.1016/j.bbi.2018.11.008. ISSN 1090-2139. PMID 30419269. 
  16. Cheema, Amanpreet K.; Sarria, Leonor; Bekheit, Mina; Collado, Fanny; Almenar‐Pérez, Eloy; Martín‐Martínez, Eva; Alegre, Jose; Castro‐Marrero, Jesus; Fletcher, Mary A.; Klimas, Nancy; Oltra, Elisa; Nathanson, Lubov (Apr 14, 2020). "Unravelling myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): Gender-specific changes in the microRNA expression profiling in ME/CFS". Journal of Cellular and Molecular Medicine. 00: 1–13. doi:10.1111/jcmm.15260. ISSN 1582-4934. PMID 32291908. 

chronic fatigue syndrome (CFS) - A fatigue-based illness. The term CFS was invented invented by the U.S. Centers for Disease Control as an replacement for myalgic encephalomyelitis (ME). Some view CFS as a neurological disease, others use the term for any unexplained long-term fatigue. Sometimes used as a the term as a synonym of myalgic encephalomyelitis, despite the different diagnostic criteria.

Centers for Disease Control and Prevention (CDC) - The Centers for Disease Control and Prevention is a U.S. government agency dedicated to epidemiology and public health. It operates under the auspices of the Department of Health and Human Services.

ME/CFS - An acronym that combines myalgic encephalomyelitis with chronic fatigue syndrome. Sometimes they are combined because people have trouble distinguishing one from the other. Sometimes they are combined because people see them as synonyms of each other.

chronic fatigue syndrome (CFS) - A fatigue-based illness. The term CFS was invented invented by the U.S. Centers for Disease Control as an replacement for myalgic encephalomyelitis (ME). Some view CFS as a neurological disease, others use the term for any unexplained long-term fatigue. Sometimes used as a the term as a synonym of myalgic encephalomyelitis, despite the different diagnostic criteria.

human leukocyte antigen complex (HLA) - A set of genes responsible for a given person's immune response to potential threats. Specifically, HLA genes encode proteins which help the immune system to distinguish the body's own proteins from proteins which are made by foreign invaders like bacteria and viruses. The HLA complex can vary greatly from person to person, generating unique immune and allergic responses. (Learn more: mecfsresearchreview.me)

chronic fatigue (CF) - Persistent and abnormal fatigue is a symptom, not an illness. It may be caused by depression, multiple sclerosis, fibromyalgia, chronic fatigue syndrome or many other illnesses. The term "chronic fatigue" should never be confused with the disease chronic fatigue syndrome.

accuracy - The "closeness of an observation to the true clinical state". With respect to diagnostic tests, "accuracy" means how specific and sensitive the test is.

chronic fatigue syndrome (CFS) - A fatigue-based illness. The term CFS was invented invented by the U.S. Centers for Disease Control as an replacement for myalgic encephalomyelitis (ME). Some view CFS as a neurological disease, others use the term for any unexplained long-term fatigue. Sometimes used as a the term as a synonym of myalgic encephalomyelitis, despite the different diagnostic criteria.

genome - an organism’s complete set of DNA, including all of its genes

myalgic encephalomyelitis (ME) - A disease often marked by neurological symptoms, but fatigue is sometimes a symptom as well. Some diagnostic criteria distinguish it from chronic fatigue syndrome, while other diagnostic criteria consider it to be a synonym for chronic fatigue syndrome. A defining characteristic of ME is post-exertional malaise (PEM), or post-exertional neuroimmune exhaustion (PENE), which is a notable exacerbation of symptoms brought on by small exertions. PEM can last for days or weeks. Symptoms can include cognitive impairments, muscle pain (myalgia), trouble remaining upright (orthostatic intolerance), sleep abnormalities, and gastro-intestinal impairments, among others. An estimated 25% of those suffering from ME are housebound or bedbound. The World Health Organization (WHO) classifies ME as a neurological disease.

mitochondria - Important parts of the biological cell, with each mitochondrion encased within a mitochondrial membrane. Mitochondria are best known for their role in energy production, earning them the nickname "the powerhouse of the cell". Mitochondria also participate in the detection of threats and the response to these threats. One of the responses to threats orchestrated by mitochondria is apoptosis, a cell suicide program used by cells when the threat can not be eliminated.

myalgic encephalomyelitis (ME) - A disease often marked by neurological symptoms, but fatigue is sometimes a symptom as well. Some diagnostic criteria distinguish it from chronic fatigue syndrome, while other diagnostic criteria consider it to be a synonym for chronic fatigue syndrome. A defining characteristic of ME is post-exertional malaise (PEM), or post-exertional neuroimmune exhaustion (PENE), which is a notable exacerbation of symptoms brought on by small exertions. PEM can last for days or weeks. Symptoms can include cognitive impairments, muscle pain (myalgia), trouble remaining upright (orthostatic intolerance), sleep abnormalities, and gastro-intestinal impairments, among others. An estimated 25% of those suffering from ME are housebound or bedbound. The World Health Organization (WHO) classifies ME as a neurological disease.

epigenome - all of the chemical compounds that are not part of the DNA sequence, but are on or attached to DNA as a way to regulate gene activity

somatic symptom disorder - A psychiatric term to describe an alleged condition whereby a person's thoughts somehow cause physical symptoms. The actual existence of such a condition is highly controversial, due to a lack of scientific evidence. It is related to other psychiatric terms, such as "psychosomatic", "neurasthenia", and "hysteria". Older terms include "somatization", "somatoform disorder", and "conversion disorder". Such terms refer to a scientifically-unsupported theory that claims that a wide range of physical symptoms can be created by the human mind, a theory which has been criticized as "mind over matter" parapsychology, a pseudoscience. Although "Somatic Symptom Disorder" is the term used by DSM-5, the term "Bodily Distress Disorder" has been proposed for ICD-11. (Learn more: www.psychologytoday.com)

The information provided at this site is not intended to diagnose or treat any illness.
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history.