present in Gene: CPT1B;CHKB-CPT1B;CHKB
present in Chromosome: 22
Position on Chromosome: 50578924
Alleles of this Variant: T/C
rs5770917 in
CPT1B;CHKB-CPT1B;CHKB gene and
Narcolepsy
PMID 18820697 2008 We conducted a genome-wide association study using 500K SNP microarrays in 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. rs5770917, a SNP located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).