Important Haplotype Information for SCN5A
Submitted by: Ping Yang and Andrew Wooldridge(PAT)
Reviewed by: Reviewed
Submitted date: Dec 21, 2006
There is One Important Haplotype for SCN5A.
- SCN5A: HapB
| Gene HGNC Name: | SCN5A |
|---|---|
| Haplotype Significance: | This haplotype in the SCN5A promoter has been found only in Asian populations to date. It consists of 5 SNPs and an indel in tight linkage disequilibrium. The frequencies of the variant minor alleles were 0.24 and 0.21 in Japanese control and Japanese Brugada Syndrome (BS) populations, respectively. The polymorphisms were absent in Caucasian and African-American samples. It has been reported that this SCN5A promoter haplotype accounted for 25-45% of the variance in PR and QRS durations in the Japanese subjects studied, and also that it predicted extent of QRS interval prolongation on challenge with sodium channel blockers. It may therefore be a predictor of arrhythmia susceptibility (e.g. on drug exposure) in this population [PMID: 16415376]. |
| Does this haplotype span more than one gene? | No |
| Definitive Publication or Website: | Bezzina CR, Shimizu W, Yang P, Koopmann TT, Tanck MW, Miyamoto Y, Kamakura S, Roden DM, Wilde AA. Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. Circulation. 2006;113:338-44 [PMID: 16415376]. |
| Key PubMed IDs: | 16415376 |
| How many SNPs, indels, repeats define this haplotype? | Six |