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Rs2653349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) ~1.5x? increased risk for cluster headaches
(G;G) 1.1 2-6x increased risk for cluster headaches
ReferenceGRCh38 38.1/141
Chromosome6
Position55277539
GeneHCRTR2
is asnp
is mentioned by
dbSNPrs2653349
ebirs2653349
Exacrs2653349
PheGenIrs2653349
hapmaprs2653349
1000 genomesrs2653349
hgdprs2653349
ensemblrs2653349
gopubmedrs2653349
geneviewrs2653349
scholarrs2653349
googlers2653349
pharmgkbrs2653349
gwascentralrs2653349
openSNPrs2653349
23andMers2653349
23andMe allrs2653349
SNP Nexus

SNPshotrs2653349
SNPdbers2653349
MSV3drs2653349
GWAS Ctlgrs2653349
GMAF0.1286
Max Magnitude1.1
? (A;A) (A;G) (G;G) 28
rs2653349, also known as G1246A, is a SNP in the HCRTR2 hypocretin-orexin gene. It has been linked primarily to cluster headaches. The more common allele (G) has been linked to increased risk; alternatively, this could be seen as implying that the less common (A) allele reduces cluster headache risk.

In the (first) study, 100+ Italian patients were analyzed to reveal that rs2653349(G;G) genotypes were at 5x increased risk for the disorder, compared with (A;G) and (A;A) genotypes.[PMID 15477554]

A study of 200+ German patients indicated that (G;G) homozygotes were at 2x increased risk (CI: 1.32-2.92, p = 0.0007) for cluster headaches.[PMID 16554494]

A meta-analysis of 3 pooled studies concluded that the rs2653349(G;G) genotype showed a higher disease risk compared to the remaining genotypes (odds ratio 1.69, CI:1.11-2.58).[PMID 17563843OA-icon.png]

Not all studies have found this association; a study of Northern Europeans did not find an association.[PMID 16801656]

Also, a study has been performed to find out if treatment success for cluster headaches is correlated with rs2653349 genotype. Among 184 Caucasian patients, while the rs2653349(G) allele was significantly associated with cluster headaches, treatment outcomes with triptans, oxygen, verapamil and corticosteroids were not.[PMID 17376114]

Independently, a study has been performed to see if rs2653349 might be associated with migraine; in this study at least, the answer was no.[PMID 17883525]

OMIM119915
DescCLUSTER HEADACHE, FAMILIAL
Variant
Relatedalso
OMIM602393
DescHYPOCRETIN RECEPTOR 2; HCRTR2
Variant
Relatedalso


GET Evidence
HCRTR2-I308V
aa_change Ile308Val
aa_change_short I308V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.825339
summary



[PMID 25398231] Cluster headache and the hypocretin receptor 2 reconsidered: A genetic association study and meta-analysis