| Geno
|
Mag
|
Summary
|
| (C;C)
|
|
>1.4x increased risk for narcolepsy
|
| (C;T)
|
|
1.4x increased risk for narcolepsy
|
| (T;T)
|
0
|
normal
|
rs5770917, a SNP located between the CPT1B and CHKB genes, was associated with narcolepsy in study of 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent and 184 African Americans. The risk allele rs5770917(C) had an odds ratio of 1.79 (p = 4.4 x 10e-7) in Japanese subjects and an odds ratio of 1.40 (p = 0.02) in other ancestry groups.10.1038/ng.231
Note that rs5770917 is in tight linkage (r2 > 0.93) with several nearby SNPs: rs2269382 and rs2269381.10.1038/ng.231
HLA-DQB1*0602 and relevance to Narcolepsy related to vaccination
| GWAS
|
| SNP
|
rs5770917
|
| PubMedID
|
[PMID 18820697]
|
| Condition
|
Narcolepsy
|
| Gene
|
CPT1B
|
| Risk Allele
|
C
|
| pValue
|
6.00E-008
|
| OR
|
1.63
|
| 95% CI
|
1.37-1.95
|
[PMID 19404393
] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia)
[PMID 19412176] Narcolepsy is strongly associated with the T-cell receptor alpha locus.
[PMID 21358852] Abnormally low serum acylcarnitine levels in narcolepsy patients.
[PMID 22177342] TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia)
