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rs2854536

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(T;T) 1 Potential environmental trigger for autoimmune diseases
Make rs2854536(C;C)
Make rs2854536(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position142357119
is asnp
is mentioned by
dbSNPrs2854536
dbSNP (classic)rs2854536
ClinGenrs2854536
ebirs2854536
HLIrs2854536
Exacrs2854536
Gnomadrs2854536
Varsomers2854536
LitVarrs2854536
Maprs2854536
PheGenIrs2854536
Biobankrs2854536
1000 genomesrs2854536
hgdprs2854536
ensemblrs2854536
geneviewrs2854536
scholarrs2854536
googlers2854536
pharmgkbrs2854536
gwascentralrs2854536
openSNPrs2854536
23andMers2854536
SNPshotrs2854536
SNPdbers2854536
MSV3drs2854536
GWAS Ctlgrs2854536
Max Magnitude1

A 2013 study of ~1,000+ Chinese patients with narcolepsy concluded that the common rs2854536(T) allele had a slight association with the condition. As stated in the article:

"Narcolepsy-hypocretin deficiency results from a highly specific autoimmune attack on hypocretin cells.... Recent studies have established antigen presentation by specific class II proteins encoded by (HLA DQB1*06:02 and DQA1*01:02) to the cognate T cell receptor as the main disease pathway, with a role for H1N1 influenza in the triggering process.... We also identified differences in HLA haplotype frequencies among cases with onset following the 2009 H1N1 influenza pandemic as compared to before the outbreak, with fewer HLA DQB1*06:02 homozygotes.... This may be the first demonstration of such an effect, and suggests that the study of changes in GWAS signals over time could help identify environmental factors in other autoimmune diseases."[PMID 24204295OA-icon.png]

? (C;C) (C;T) (T;T) 28


GWAS snp
PMID [PMID 24204295OA-icon.png]
Trait Narcolepsy
Title Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.
Risk Allele
P-val 4E-8
Odds Ratio 1.28 [1.18-1.41]