SNPwatch: Researchers Find More Genetic Variations Associated With Blood Pressure

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.

Chronically high blood pressure is a serious health problem that affects about one out of every three adults and contributes to approximately 17.5 million deaths worldwide each year.  While there are many things people can do to try to keep their blood pressure down – lower salt intake, maintain a healthy weight and drink in moderation – studies have shown that genetics also plays a part.

But finding common genetic variations that affect blood pressure hasn’t been easy. Just five months ago The Spittoon reported on the first validated association in Europeans. Now, two large consortia have identified several more.  Their findings, published online this week in the journal Nature Genetics, expand the current understanding of how blood pressure is determined and may point the way towards targets for new drugs for treating possibly preventing hypertension.

“None of the genes we identified as having common variation are part of the system we know about that regulates blood pressure – the genes identified are not the ones targeted by current prescription drugs to control hypertension.  If we can increase the number of genes implicated in blood pressure maintenance…our understanding of the biology will change completely,” said Aravinda Chakravarti, head of the Center for Complex Disease Genomics in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University School of Medicine and a co-author of one of the studies, in a statement.

The two research groups analyzed data from an enormous number of people – more than 50,000 in the Global BPgen study and more than 29,000 in the CHARGE study.  Such large samples are needed because variation in blood pressure is likely due to many variations, each with very small effects.

After conducting their own analyses, the researchers from each consortium shared their findings with each other, allowing the scientists to further confirm their results.  All together, six distinct variations associated with systolic blood pressure (SBP) and nine associated with diastolic blood pressure (DBP) were found and confirmed between the two studies. The Global BPgen consortium also studied more than 12,000 South Asian Indians and found evidence for association between blood pressure and two of the SNPs identified in the European studies.

(23andMe customers can check their data for many of these SNPs using the Browse Raw Data feature.  See tables at the end of this post for more information.)

Further analysis of the Global BPgen results showed that all of the SNPs associated with SBP through the genomewide analysis were similarly related to DBP, and vice versa. And not surprisingly, all of the SNPs the researchers identified were also associated with hypertension; the version of each SNP linked to lower blood pressure was also decreased a person’s odds of having the condition.

The effects of the individual SNPs were small, but the authors of both studies point out that small changes in blood pressure can translate to important changes in the risk of heart disease and stroke.  For example, the authors of Global BPgen study say that lowering SBP by 2 mmHg has been estimated to translate into 6% lower risk of stroke and 5% lower risk of coronary heart disease.  The authors of the CHARGE study cite other data showing that a prolonged increase in DBP of 5 mm Hg is associated with a 34% increase in risk for stroke and a 21% increase in the risk of coronary events.

All SNPs that were found to have significant association with blood pressure by both groups after they shared their data with each other are given below. Those SNPs for which 23andMe can provide data are linked to the Browse Raw Data feature.  Some linked SNPs are proxies for the SNPs described in the original articles and are noted as such.  The information in the first table applies only to people with European ancestry.  The second table provides information on the findings of the Global BPgen study of South Asian Indians.

SNP Version Effect (mmHg) Odds of Hypertension Study Notes
Systolic Blood Pressure (SBP)
rs17367504 G -0.85 0.89 Global BPgen
rs12413409 G +1.16 1.16 Global BPgen Proxy for rs11191548; a nearby, but not completely linked, SNP was identified in CHARGE
rs12946454 T +0.57 1.07 Global BPgen
rs381815 T +0.65 Not Available CHARGE
rs2681492 T +0.85 Not Available CHARGE Very close to the DBP associated SNP rs2681472
rs3184504 T +0.58 Not Available CHARGE
Diastolic Blood Pressure (DBP)
rs16998073 T +0.5 1.1 Global BPgen
rs751891 T -0.39 0.95 Global BPgen Proxy for rs1530440
rs653178 T -0.46 0.93 Global BPgen/CHARGE CHARGE study identified rs3184504
rs1378942 C +0.43 1.1 Global BPgen A nearby, but not completely linked, SNP was identified in CHARGE
rs16948048 G +0.31 1.06 Global BPgen
rs10212536 G +0.49 Not Available CHARGE Proxy for rs9815354
rs11014166 A +0.37 Not Available CHARGE
rs2681472 A +0.5 Not Available CHARGE Very close to the SBP associated SNP rs2681492
rs2384550 A -0.35 Not Available CHARGE




SNP Version Effect (mmHg) Notes
rs16998073 T DBP/+0.76
rs12413409 G SBP/+0.54 Proxy for rs11191548; may not be perfect proxy