Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

KCNK17 is a member of the acid-sensitive subfamily of tandem pore K(+) channels, which are open at all membrane potentials an red contribute to cellular resting membrane potential. Recent genome-wide study (GWA) has shown that variants within KCNK17 confer genetic susceptibility for increasing ischemic stroke. In an effort to discover additional polymorphism(s), we scrutinized the genetic polymorphisms in the KCNK17. By direct DNA sequencing in 32 individuals, we identified nine sequence variants within the 16 kb of whole KCNK17 gene: one in exon1, one in intron and seven in the promoter region. Haplotypes, their frequencies and linkage disequilibrium coefficients (D'), among polymorphisms were estimated. All the polymorphisms in the 5'-flanking region (SNP2-SNP7) being in complete (or nearly complete) association with each other in the promoter region maybe produce synergistic effect to regulate the expression of KCNK17 gene and then have an influence on the pathogenesis of cerebrovascular diseases. The common haplotypes were observed comprising 88.9% of the total haplotypes in the same block. Bioinformatic analysis predicted several potential transcriptional factors binding sites by SNP -95, -134, -596 and -846. However, these binding sites need to be experimentally verified. The information concerning genetic polymorphisms of KCNK17 gene might provide valuable information for future genetic studies of diseases.
 ...
PMID:Identification of common variants within KCNK17 in Chinese Han population. 2015 49

KCNK17 (potassium channel, subfamily K, member17) was first discovered to associate with the pathogenesis of ischemic stroke in the first genome-wide association study. The rs10947803 SNP in KCNK17 is significantly associated with ischemic stroke in Caucasian populations. The aim of the present study was to investigate the association with strokes in the Chinese population. A total of 1364 stroke patients and 1293 controls were examined using a case-control methodology. The rs10947803 SNP in KCNK17 was genotyped by a TaqMan real-time PCR assay. The rs10947803 SNP (A allele) of KCNK17 was significantly associated with cerebral hemorrhage (for AA+AC versus CC, unadjusted odds ratio [OR]=1.70; 95% confidence interval [CI], 1.08-2.69; P=0.020). After adjustment for age and sex, the association remained significant for AA+AC versus CC, OR=1.65; 95% CI, 1.04-2.62; P=0.033. In addition, the rs10947803 SNP in KCNK17 was not associated with ischemic stroke (for AA+AC versus CC, unadjusted OR=0.92; 95% CI, 0.81-1.05; P=0.212, after age- and sex-adjustment, OR=0.87; 95% CI, 0.72-1.05; P=0.143). The rs10947803 SNP (A allele) in KCNK17 increases the risk of cerebral hemorrhage but not ischemic stroke in the Chinese population.
 ...
PMID:The rs10947803 SNP of KCNK17 is associated with cerebral hemorrhage but not ischemic stroke in a Chinese population. 2339 55