RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Marshall-Gradisnik, Sonya  Johnston, Samantha  Chacko, Anu  Nguyen, Thao  Smith, Peter  Staines, Donald 
Citation: Marshall-Gradisnik S, etal., J Int Med Res. 2016 Dec;44(6):1381-1394. doi: 10.1177/0300060516671622. Epub 2016 Nov 11.
RGD ID: 40886272
Pubmed: PMID:27834303   (View Abstract at PubMed)
PMCID: PMC5536760   (View Article at PubMed Central)
DOI: DOI:10.1177/0300060516671622   (Journal Full-text)

Objective The pathomechanism of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is unknown; however, a small subgroup of patients has shown muscarinic antibody positivity and reduced symptom presentation following anti-CD20 intervention. Given the important roles of calcium (Ca2+) and acetylcholine (ACh) signalling in B cell activation and potential antibody development, we aimed to identify relevant single nucleotide polymorphisms (SNPs) and genotypes in isolated B cells from CFS/ME patients. Methods A total of 11 CFS/ME patients (aged 31.82 ± 5.50 years) and 11 non-fatigued controls (aged 33.91 ± 5.06 years) were included. Flow cytometric protocols were used to determine B cell purity, followed by SNP and genotype analysis for 21 mammalian TRP ion channel genes and nine mammalian ACh receptor genes. SNP association and genotyping analysis were performed using ANOVA and PLINK analysis software. Results Seventy-eight SNPs were identified in nicotinic and muscarinic acetylcholine receptor genes in the CFS/ME group, of which 35 were in mAChM3. The remaining SNPs were identified in nAChR delta (n = 12), nAChR alpha 9 (n = 5), TRPV2 (n = 7), TRPM3 (n = 4), TRPM4 (n = 1) mAChRM3 2 (n = 2), and mAChRM5 (n = 3) genes. Nine genotypes were identified from SNPs in TRPM3 (n = 1), TRPC6 (n = 1), mAChRM3 (n = 2), nAChR alpha 4 (n = 1), and nAChR beta 1 (n = 4) genes, and were located in introns and 3' untranslated regions. Odds ratios for these specific genotypes ranged between 7.11 and 26.67 for CFS/ME compared with the non-fatigued control group. Conclusion 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chronic fatigue syndrome  IAGP 40886272DNA:SNPs: :RGD 
chronic fatigue syndrome  ISOTRPC6 (Homo sapiens)40886272; 40886272DNA:SNPs: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Trpc6  (transient receptor potential cation channel, subfamily C, member 6)

Genes (Mus musculus)
Trpc6  (transient receptor potential cation channel, subfamily C, member 6)

Genes (Homo sapiens)
TRPC6  (transient receptor potential cation channel subfamily C member 6)


Additional Information