SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.QTGEN and QTSCD) looked for genetic variants associated with natural variation in QT interval in more than 28,000 people. The results, published online yesterday in the journal Nature Genetics, identify a total of 14 SNPs that can now be used as the basis of future research aimed at understanding susceptibility to QT interval-related irregular heart beat and sudden cardiac death.“The reason people die from this cardiovascular disorder is because we know nothing about the antecedents,” said Aravinda Chakravarti, QTSCD study senior investigator, in a statement. “It’s like a truck barreling down a slope: there’s no way to stop it. The only way out is to understand the science of this in a deep, meaningful way. If we know, we can begin to intervene.”More than half of the variants identified by the researchers are located in genes already known to be involved in heart cell regulation, some of which are also mutated in familial syndromes characterized by long QT intervals. But five of the SNPs are in genes not previously recognized as players in the electrical activity of the heart. These findings open up new avenues for cardiovascular research.According to the authors of one study (QTGEN), the variants found in these studies together explain more of the variation in QT interval seen in the population than any other factor except for heart rate. But they warn that more research is still needed to determine whether the variants actually contribute to the risk for sudden cardiac death in addition to lengthening QT intervals.The following table lists the variations reported in the studies discussed above. SNPs available to 23andMe customers are linked to the Browse Raw Data feature. Note that the individual changes in QT interval attributable to each individual SNP are very small compared to the normal range of 300 to 450 milliseconds (ms). THESE SNPS CANNOT BE USED TO DIAGNOSE OR PREDICT LONG OR SHORT QT SYNDROME.
|SNP||Version||Change in QT Interval (ms)||Notes|
|rs1805128||T||+0.875||Not supported in QTSCD study|
|rs1052536||T||-1.05||This SNP is a proxy for rs2074518, which was reported in the QTGEN study|