1p36.22 |
MTHFR (C677T or rs1801133) |
Potentially involved in FM, homocystinuria, alopecia areata, muscle stiffness, dry eyes, schizophrenia, autism, depression, dementia, and migraine. |
Inanir et al. 2015INANIR A, YIGIT S, TEKCAN A, PINARLI FA, INANIR S & KARAKUS N. 2015. Angiotensin converting enzyme and methylenetetrahydrofolate reductase gene variations in fibromyalgia syndrome. Gene 564(2): 188-192.
|
1q23.3 |
RGS4 (rs10799897, rs2842003, rs2805050) |
Potentially involved in FM, schizophrenia, and alteration in pain inhibition |
Smith et al. 2012SMITH SB ET AL. 2012. Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. Arthritis Rheum 64(2): 584-593., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944.
|
2p25.3 |
MYT1L (rs11127292) |
Associated with low comorbidities in FM, autism spectrum disorder, mental and cognitive retardation. |
Docampo et al. 2014DOCAMPO E ET AL. 2014. Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system. Pain 155(6): 1102-1109.
|
2p12 |
TACR1 (rs3771863) |
Dementia, breast cancer, fatigue, and Sicca syndrome in FM. |
Rodriguez-Rodriguez et al. 2015RODRIGUEZ-RODRIGUEZ L, LAMAS JR, ABÁSOLO L, BAENA S, OLANO-MARTIN E, COLLADO A, RIVERA J & FERNÁNDEZ-GUTIÉRREZ B. 2015. The rs3771863 single nucleotide polymorphism of the TACR1 gene is associated to a lower risk of sicca syndrome in fibromyalgia patients. Clin Exp Rheumatol 33: S33-40.
|
2q24.3 |
SCN9A (rs6754031) |
Risk of developing FM, congenital insensitivity to pain, erythromelalgia, paroxysmal pain disorder, small fiber neuropathy, genetic epilepsy with seasonal fever, type 2 hereditary sensory and autonomic neuropathy. |
Vargas-Alarcon et al. 2012VARGAS-ALARCON G, ALVAREZ-LEON E, FRAGOSO JM, VARGAS A, MARTINEZ A, VALLEJO M & MARTINEZ-LAVIN M. 2012. A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. BMC Musculoskelet Disord 13: 1-5.
|
3q13.31 |
DRD3 (rs6280 or Ser9Gly) |
Thermal hyperalgesia in FM, migraine, schizophrenia, opioid addiction, alcoholism, and hereditary essential tremor type 1. |
Potvin et al. 2009POTVIN S, LAROUCHE A, NORMAND E, DE SOUZA JB, GAUMOND I, GRIGNON S & MARCHAND S. 2009. DRD3 Ser9Gly Polymorphism Is Related to Thermal Pain Perception and Modulation in Chronic Widespread Pain Patients and Healthy Controls. J Pain 10(9): 969-975.
|
5q31-q32 |
ADRB2 (rs1042713, rs1042714) |
(FM) + migraine, autoimmune disorders, musculoskeletal pain disorder, type 2 diabetes, autism, obesity and metabolic alterations. |
Vargas-Alarcón et al. 2009VARGAS-ALARCÓN G, FRAGOSO JM, CRUZ-ROBLES D, VARGAS A, MARTINEZ A, LAO-VILLADÓNIGA JI, GARCÍA-FRUCTUOSO F, VALLEJO M & MARTÍNEZ-LAVÍN M. 2009. Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains. Arthritis Rheum 60(7): 2169-2173.
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5q31.1 |
IL-4 (Intron 3 VNTR) |
Risk for developing FM, hypocortisolism resulting in the inflammatory state on patients and chronic symptoms |
Yigit et al. 2013YIGIT S, INANIR A, TEKCAN A, INANIR S, TURAL S & ATES O. 2013. Association between fibromyalgia syndrome and polymorphism of the IL-4 gene in a Turkish population. Gene 527(1): 62-64.
|
6p21.32 |
HLA-DRB1
|
Low association with immune response in FM, depressive symptoms, alopecia areata, autoimmune Addison’s disease, Crohn’s disease, Graves’ disease, Lyme disease, Hashimoto’s thyroiditis, idiopathic inflammatory myopathy, idiopathic juvenile arthritis, multiple sclerosis, narcolepsy, psoriatic arthritis, rheumatoid arthritis, rosacea, type 1 diabetes, and autoimmune disorders. |
Yunus et al. 1999YUNUS MB, KHAN MA, RAWLINGS KK, GREEN JR, OLSON JM & SHAH S. 1999. Genetic linkage analysis of multicase families with fibromyalgia syndrome. J Rheumatol 26(2): 408-412.
|
6p24.1 |
EDN1 (rs1800541) |
Susceptibility to FM, hearing loss, rheumatoid arthritis. |
Nah et al. 2017NAH SS, LEE H, HONG Y, IM J, WON H, CHANG SH, KIM HK, KWON JT & KIM HJ. 2017. Association between endothelin1 and fibromyalgia syndrome. Mol Med Rep 16(5): 6234-6239.
|
6q15 |
CNR1 (rs6454674, rs1078602, rs10485171) |
Potentially involved in FM, obesity, irritable bowel syndrome, migraine, and post-traumatic stress disorder. |
Smith et al. 2012SMITH SB ET AL. 2012. Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. Arthritis Rheum 64(2): 584-593., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944.
|
6q23.2 |
TAAR1 (rs8192619, rs4129256) |
Potentially involved in FM, schizophrenia, increased pain sensitivity and low dopamine disponible. |
Smith et al. 2012SMITH SB ET AL. 2012. Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. Arthritis Rheum 64(2): 584-593., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944.
|
6q25.2 |
OPRM1 (rs1799971) |
Risk of developing FM, pain intensity, schizophrenia, alcoholism, and drug addiction. |
Estévez-López et al. 2018 |
8p21.2 |
ADRA1A (rs1383914, rs1048101, rs574584, rs573542) |
(FM) + pain syndrome, obesity, and schizophrenia. |
Vargas-Alarcón et al. 2009VARGAS-ALARCÓN G, FRAGOSO JM, CRUZ-ROBLES D, VARGAS A, MARTINEZ A, LAO-VILLADÓNIGA JI, GARCÍA-FRUCTUOSO F, VALLEJO M & MARTÍNEZ-LAVÍN M. 2009. Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains. Arthritis Rheum 60(7): 2169-2173.
|
8p11.23 |
ADRB3 (rs4994) |
Potentially involved in FM, obesity, schizophrenia, type 2 diabetes, and cardiovascular risk. |
Vargas-Alarcón et al. 2009VARGAS-ALARCÓN G, FRAGOSO JM, CRUZ-ROBLES D, VARGAS A, MARTINEZ A, LAO-VILLADÓNIGA JI, GARCÍA-FRUCTUOSO F, VALLEJO M & MARTÍNEZ-LAVÍN M. 2009. Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains. Arthritis Rheum 60(7): 2169-2173.
|
11p14.1 |
BDNF (rs6265, rs12273539, rs11030104) |
Alzheimer’s disease, risk of suicidal behavior, increased BMI, opioid addiction, WAGR syndrome (disorder that affects Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability) and psychiatric diseases (anxiety, bipolar disorder, schizophrenia and eating disorder). |
Xiao et al. 2011XIAO Y, HE W & JON RUSSELL I. 2011. Genetic Polymorphisms of the β2-Adrenergic Receptor Relate to Guanosine Protein-coupled Stimulator Receptor Dysfunction in Fibromyalgia Syndrome. J Rheumatol 38(6): 1095-1103., Park et al. 2018PARK DJ ET AL. 2018. Association between brain-derived neurotrophic factor gene polymorphisms and fibromyalgia in a Korean population: A multicenter study. Arthritis Res Ther 20(1): 1-11.
|
11q22.3 |
GRIA4 (rs642544, rs17104711, rs2510177, rs10895837) |
Potentially involved in FM, neurodevelopmental disorder, and central sensitivity. |
Smith et al. 2012SMITH SB ET AL. 2012. Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. Arthritis Rheum 64(2): 584-593., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944.
|
11q23.2 |
HTR3A (rs118162387) |
Associated with severity of FM, irritable bowel syndrome, serotonin syndrome, schizophrenia, and social phobia. |
Frank et al. 2004FRANK B, NIESLER B, BONDY B, SPÄTH M, PONGRATZ DE, ACKENHEIL M, FISCHER C & RAPPOLD G. 2004. Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients. Clin Rheumatol Aug 23(4): 338-344., Limer et al. 2008LIMER KL, NICHOLL BI, THOMSON W & MCBETH J. 2008. Exploring the genetic susceptibility of chronic widespread pain: the tender points in genetic association studies. Rheumatology (Oxford) 47(5): 572-577.
|
11q23.2 |
HTR3B (rs118162387) |
Drug addiction, Gilles de la Tourette syndrome, myasthenic congenital syndrome, schizophrenia and pigmented paravenous chorioretinal atrophy. |
Frank et al. 2004FRANK B, NIESLER B, BONDY B, SPÄTH M, PONGRATZ DE, ACKENHEIL M, FISCHER C & RAPPOLD G. 2004. Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients. Clin Rheumatol Aug 23(4): 338-344., Limer et al. 2008LIMER KL, NICHOLL BI, THOMSON W & MCBETH J. 2008. Exploring the genetic susceptibility of chronic widespread pain: the tender points in genetic association studies. Rheumatology (Oxford) 47(5): 572-577.
|
13q14.2 |
HTR2A or 5HT-2A (rs6313 or T102C) |
(FM) + schizophrenia, alcoholism, comorbid symptoms of pain, psychological and behavioral disorders. |
Mergener et al. 2011MERGENER M, BECKER RM, DOS SANTOS AF, DOS SANTOS GA & DE ANDRADE FM. 2011. Influence of the interaction between environmental quality and T102C SNP in the HTR2A gene on fibromyalgia susceptibility. Rev Bras Reumatol 51(6): 594-602., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944., Limer et al. 2008LIMER KL, NICHOLL BI, THOMSON W & MCBETH J. 2008. Exploring the genetic susceptibility of chronic widespread pain: the tender points in genetic association studies. Rheumatology (Oxford) 47(5): 572-577.
|
14q22.2 |
GCH1 (rs841) |
(FM) + Pain sensitivity. |
Estévez-López et al. 2018, Kim et al. 2013KIM SK ET AL. 2013. Association of guanosine triphosphate cyclohydrolase 1 gene polymorphism with fibromyalgia syndrome in a Korean population. J Rheumatol 40(3): 316-322. |
14q24.3-q31.1 |
NRXN3 (intronic CNVs/copy number variants) |
Associated with low comorbidities in FM, schizophrenia, alcoholism, and autism spectrum disorder. |
Docampo et al. 2014DOCAMPO E ET AL. 2014. Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system. Pain 155(6): 1102-1109.
|
14q32.13 |
SERPINA 1 or A1AT |
Potentially involved in FM, anxiety disorder, type 1 and 2 bipolar disorder, post-traumatic stress disorder and alpha 1 antitrypsin deficiency. |
Schmechel & Edwards 2012SCHMECHEL DE & EDWARDS CL. 2012. Fibromyalgia, mood disorders, and intense creative energy: A1AT polymorphisms are not always silent. Neurotoxicology 33(6): 1454-1472.
|
16p13.3 |
MEFV (rs224222) |
Potentially involved in FM, fatigue, irritable bowel syndrome and immunity regulator. |
Karakus et al. 2012KARAKUS N, YIGIT S, INANIR A, INANIR S, TOPRAK H & OKAN S. 2012. Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients. Clin Chim Acta 414: 36-40.
|
17p13.2 |
TRPV3 (rs395357) |
Potentially involved in FM, fatigue, palmoplantar keratoderma, and Olmsted syndrome. |
Vargas-Alarcon et al. 2012VARGAS-ALARCON G, ALVAREZ-LEON E, FRAGOSO JM, VARGAS A, MARTINEZ A, VALLEJO M & MARTINEZ-LAVIN M. 2012. A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. BMC Musculoskelet Disord 13: 1-5., Park et al. 2016aPARK DJ ET AL. 2016a. Association between catechol-O-methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case–control study. Eur J Pain 20(7): 1131-1139., b |
17q11.2 |
SLC6A4 (rs25531, 5-HTTLPR or rs4795541) |
(FM) + depression, migraine, psychological stress, obsessive and compulsive disorder, alcoholism, anxiety, suicide, and temporomandibular joint disorder. |
Arnold et al. 2013ARNOLD LM, FAN J, RUSSELL IJ, YUNUS MB, KHAN MA, KUSHNER I, OLSON JM & IYENGAR SK. 2013. The fibromyalgia family study: a genome-wide linkage scan study. Arthritis Rheum 65(4): 1122-1128., Kosek et al. 2016KOSEK E ET AL. 2016. The translocator protein gene is associated with symptom severity and cerebral pain processing in fibromyalgia. Brain Behav Immun 58: 218-227., D’Agnelli et al. 2019D’AGNELLI S, ARENDT-NIELSEN L, GERRA MC, ZATORRI K, BOGGIANI L, BACIARELLO M & BIGNAMI E. 2019. Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers. Mol Pain 15: 1744806918819944.
|
17q23.3 |
ACE (rs1799752) |
Potentially involved in FM, migraine, cardiovascular disorder, and psychiatric conditions. |
Inanir et al. 2015INANIR A, YIGIT S, TEKCAN A, PINARLI FA, INANIR S & KARAKUS N. 2015. Angiotensin converting enzyme and methylenetetrahydrofolate reductase gene variations in fibromyalgia syndrome. Gene 564(2): 188-192.
|
22q13.2 |
TSPO (rs6971) |
Potentially involved in FM, bipolar disorder, and pain severity. |
Kosek et al. 2016KOSEK E ET AL. 2016. The translocator protein gene is associated with symptom severity and cerebral pain processing in fibromyalgia. Brain Behav Immun 58: 218-227.
|
22q11.21 |
COMT (rs4680, rs2097903, rs4818, rs4633, rs6269) |
(FM) + increase of pain severity, fatigue, headaches, schizophrenia, 22q11.2 deletion syndrome, alcoholism, opioid addiction, mental disorders, disability, depression, bipolar disorder, panic disorder, anxiety, obsessive, and compulsive disorder, eating disorder and attention deficit. |
Inanir et al. 2014INANIR A, KARAKUS N, ATES O, SEZER S, BOZKURT N, INANIR S & YIGIT S. 2014. Clinical symptoms in fibromyalgia are associated to catechol-O-methyltransferase (COMT) gene Val158Met polymorphism. Xenobiotica Oct 44(10): 952-956., Cohen et al. 2009COHEN H, NEUMANN L, GLAZER Y, EBSTEIN RP & BUSKILA D. 2009. The relationship between a common catechol-O-methyltransferase (COMT) polymorphism val158met and fibromyalgia. Clin Exp Rheumatol 27(5): S51-56., Estévez-López et al. 2018, Desmeules et al. 2014DESMEULES J, CHABERT J, REBSAMEN M, RAPITI E, PIGUET V, BESSON M, DAYER P & CEDRASCHI C. 2014. Central pain sensitization, COMT Val158Met polymorphism, and emotional factors in fibromyalgia. J Pain 15(2): 129-135., Fernández-de-las-Peñas et al. 2014FERNÁNDEZ-DE-LAS-PEÑAS C, PEÑACOBA-PUENTE C, CIGARÁN-MÉNDEZ M, DÍAZ-RODRÍGUEZ L, RUBIO-RUIZ B, & ARROYO-MORALES M. 2014. Has catechol-o-methyltransferase genotype (Val158Met) an influence on endocrine, sympathetic nervous and humoral immune systems in women with fibromyalgia syndrome? J Pain 30(3): 199-204., Fernández-de-las-Peñas et al. 2012FERNÁNDEZ-DE-LAS-PEÑAS C, AMBITE-QUESADA S, GIL-CRUJERA A, CIGARÁN-MÉNDEZ M, & PEÑACOBA-PUENTE C. 2012. Catechol-O-methyltransferase Val158Met polymorphism influences anxiety, depression, and disability, but not pressure pain sensitivity, in women with fibromyalgia syndrome. J Pain 13(11): 1068-1074., Barbosa et al. 2012BARBOSA FR, MATSUDA JB, MAZUCATO M, DE CASTRO FRANÇA S, ZINGARETTI SM, DA SILVA LM, MARTINEZ-ROSSI NM, JÚNIOR MF, MARINS M & ANA LÚCIA F. 2012. Influence of catechol-O-methyltransferase (COMT) gene polymorphisms in pain sensibility of Brazilian fibromyalgia patients. Rheumatol Int 32(2): 427-430., Desmeules et al. 2012DESMEULES J, PIGUET V, BESSON M, CHABERT J, RAPITI E, REBSAMEN M, ROSSIER MF, CURTIN F, DAYER P & CEDRASCHI C. 2012 Psychological distress in fibromyalgia patients: A role for Catechol-O-Methyl-Transferase Val158Met polymorphism. Health Psychol 31: 242-249., Lee et al. 2015LEE YH, KIM JH & SONG GG. 2015. Association between the COMT Val158Met polymorphism and fibromyalgia susceptibility and fibromyalgia impact questionnaire score: a meta-analysis. Rheumatol Int 35(1): 159-166., Vargas-Alarcón et al. 2007VARGAS-ALARCÓN G ET AL. 2007. Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. Arthritis Res Ther 9(5): 1-7., Gürsoy et al. 2003GÜRSOY S, ERDAL E, HERKEN H, MADENCI E, ALAŞEHIRLI B & ERDAL N. 2003. Significance of catechol-O-methyltransferase gene polymorphism in fibromyalgia syndrome. Rheumatol Int 23(3): 104-107., Park at al. 2016a, b |
Xp11.3 |
MAOA (rs6323) |
Potentially involved in FM, neuropsychiatric conditions such as alcoholism, antisocial personality and impulsivity. |
Gürsoy et al. 2008GÜRSOY S, ERDAL E, SEZGIN M, BARLAS IO, AYDENIZ A, ALAŞEHIRLI B & SAHIN G. 2008. Which genotype of MAO gene that the patients have are likely to be most susceptible to the symptoms of fibromyalgia? Rheumatol Int Feb 28(4): 307-311., Limer et al. 2008LIMER KL, NICHOLL BI, THOMSON W & MCBETH J. 2008. Exploring the genetic susceptibility of chronic widespread pain: the tender points in genetic association studies. Rheumatology (Oxford) 47(5): 572-577.
|