Knowing your risk for Chronic Kidney Disease through a deCODEme DNA scan can increase your awareness and empower you to take preventive steps to protect your kidneys.

Chronic Kidney Disease has been added to the deCODEme Complete Scan. Chronic Kidney Disease involves the gradual loss of kidney function over time that can ultimately lead to kidney failure. It typically develops as a result of other common diseases, primarily diabetes, high blood pressure and obesity, but not everyone has the same risk of developing Chronic Kidney Disease. Research suggests that this disease has a strong familial component.

In the U.S., an estimated 26 million adults have Chronic Kidney Disease, but most of them do not know it. The kidneys have such a remarkable ability to compensate for problems in their function, that there may be no symptoms of Chronic Kidney Disease until it has progressed considerably.

Recently, scientists identified a common genetic variant (rs4293393-T), associated with increased risk of Chronic Kidney Disease. deCODEme has incorporated these results into the complete genetic scan, which analyzes your DNA and provides you with a personalized risk assessment for Chronic Kidney Disease and about many other diseases, including diabetes, obesity and kidney stones.

Chronic Kidney Disease is a growing problem in the U.S. and in other western parts of the world, Knowing your risk for Chronic Kidney Disease can increase your awareness and empower you to take preventive steps to protect your kidneys.

deCODE Discovers a Gene Linked to Risk of Kidney Stones and Osteoporosis. Findings offer promising target for drugs to better regulate calcium metabolism, are integrated into deCODEme™.

A discovery by scientists at deCODE genetics and academic colleagues from Iceland, the Netherlands and Denmark has pointed to a common biological mechanism contributing to both kidney stones and decreased bone mineral density (BMD). About 60% of the population carry two copies of a single-letter variation in the human genome (SNP) on chromosome 21, putting them at roughly 65% greater likelihood of developing kidney stones than those who carry no copies. This single variant may thus account for more than a quarter of the incidence of kidney stones, and in women carriers it is also associated with decreased BMD at the hip and spine.

The study, which involved the analysis of the genomes of some 50,000 patients and controls, is published in the online edition of Nature Genetics and will appear in upcoming print edition of the journal.

The SNP is in the gene encoding claudin 14 (CLDN14), a protein expressed in the kidney and one of a family of membrane proteins that regulate the passage of ions and small solutes between cells. As calcium is a key component both of most kidney stones and of bone, the deCODE team examined the relationship between CLDN14 and the metabolism of calcium. The results suggest that the SNP may be contributing to increased calcium excretion in urine, a major risk factor for kidney stones and also a sign of bone loss.

“This is an exciting finding because it uncovers a highly plausible common biological mechanism leading to two diseases. This offers a potentially attractive new pathway for drug discovery, and the next task is to build on our undertanding of how this SNP increases risk of these diseases and how this pathway could be targeted therapeutically to address this risk. As ever, deCODEme subscribers will see this new variant in their profiles, and we look forward building on this discovery,” said Kari Stefansson, CEO of deCODE.

About kidney stones
Kidney stones are small crystals formed of dissolved minerals, mainly calcium, that form in the kideys. Smaller stones can simply be passed through urination, though larger ones can block the urinary tract, causing considerable pain and bleeding. Kidney stones affect some 5% of women and 10% of men in the industrialized world. Larger stones can be detected with ultrasound screening and broken up to facilitate passage, though the recurrence rate is high.

deCODE would like to thank all those who participated in this study, as well as the collaborating clinicians and scientists from the Landspitali University Hospital in Reykjavik, Iceland, Radboud University Nijmegen Medical Centre in Nijmegen, Netherlands, Nordic Bioscience A/S in Herlev, Denmark and the Center for Clinical and Basic Research A/S in Ballerup, Denmark.

The deCODEme team has been busy working to update and improve your deCODEme experience.  Additions include ABO blood types, Kidney stones, Eye color and Statin-induced myopathy. We have also added  a section for feedback and research and a more detailed Male line analysis.

Here is a summary of the additions and changes:

FEEDBACK AND RESEARCH

Many deCODEme customers have contacted us, asking whether they could contribute to our research efforts and receive statistical feedback about the deCODEme user community. In response to these wishes, we have introduced optional survey questions about the various traits included in the deCODEme scans. To see the entire list of questions, click the “Feedback and Research” link on the home page that appears when you first log into your deCODEme account. Alternatively, you can see the questions for each trait when you view your results by clicking on the new “Research” tab. Participation is optional and entirely voluntary and you can, at any time, have the questions removed from your account by checking the box marked “I do not want to participate in feedback & research”.

Updates for deCODEme Complete Scan

ANCESTRY UPDATES

A new look for the Female Line and Male line ancestry analyses
The deCODEme web-design and ancestry teams have made several changes to the look and feel of the Female Line and Male Line ancestry analyses. Our aim was not only to make the presentation of your results clearer and more visually pleasing, but also to accommodate new features, some of which have already been introduced (link to More detailed Male Line analysis).

More detailed Male Line analysis
The deCODEme ancestry team has recently updated and expanded the classification of Y-chromosomes in the Male Line analysis. We have added two new Y-groups to our Male Line classification system, bringing the number Y-groups to 24. More importantly, male deCODEme customers can now have their Y-chromosomes classified into one of over 105 Y-subgroups. This provides a much more detailed picture of your genealogical relationship to other people through the male line. Thus, for example, if your Male Line result previously assigned you to Y-group R1b, you can now find out which of the 15 different R1b subgroups you belong to. You are much more closely related to other members of your subgroup through the male line than you are to those who do not belong to that subgroup – even if they belong to the same Y-group as you. Click on the “subgroup tree” tab on your Male Line results page to learn more about your Y subgroup.

HEALTH WATCH UPDATES

New diseases and traits in Health watch

Kidney stones
Kidney stones are small crystals formed of dissolved minerals, mainly calcium, that form in the kidneys. Smaller stones can simply be passed through urination, though larger ones can block the urinary tract, causing considerable pain and bleeding. Kidney stones affect some 5% of women and 10% of men in the industrialized world. We are proud to announce that our scientists at deCODE genetics have just published new scientific results that shed light on genetic variants that affect the risk of developing kidney stones. Within hours of the first report of this exciting new discovery in the scientific literature [link to manuscript on Nature genetics website], deCODEme customers can log into their Complete Scan accounts and examine an estimate of their genetic risk for developing kidney stones! The discovery involves a common genetic variant in the CLDN14 gene on chromosome 21 that is associated with increased concentration of urinary calcium, which in turn leads to an increased risk of developing kidney stones.

ABO blood types
There are four different ABO blood types, named A, B, O and AB. Many people know their ABO blood types, because they are typically assessed by healthcare workers when a person receives blood or donates blood or an organ. This is because it is critically important to match ABO blood types of donors and recipients of blood or organs. Your ABO blood type depends on which kind of glycoprotein or antigen is found on the outside of your blood cells. These glycoproteins come in three forms and are referred to as A, B and O. The gene that determines your ABO blood type is found on chromosome 9 and is called ABO glycosyltransferase. In the simplest terms, this gene may be said to come in three different forms, that is, it has three different alleles. These alleles are also named A, B and O, because each is responsible for the production of its namesake glycoprotein (antigen). It is therefore the combination of alleles that you inherited from your parents that determines which glycoproteins are found on your blood cells and thereby your ABO blood type. The deCODEme genetic scan determines which combination of the three ABO alleles you carry on chromosome 9 and therefore which blood type you are likely to have.

Eye color
Eye color refers to the color of the iris. The color of the iris is determined by the amount and distribution of melanin, a dark brown pigment, which is produced by a special type of cell called the melanocyte. In simple terms, a brown iris contains abundant melanin, whereas a blue iris contains much less melanin. Albinos have an almost complete lack of melanin, resulting in a red or pink iris color (due to the greater visibility of blood vessels through the almost transparent iris). The vast majority of people in the world have brown eyes. It is primarily those of European descent that we find normal variation in eye color, in the form of blue, grey or green colored eyes. While eye color is a trait determined by several genes, some genes seem to play a more important role than others. The deCODEme Genetic Scan identifies a genetic variant associated with blue and brown eye-color in the HERC2 gene on chromosome 15. The results provide an interpretation of the associated likelihood of blue/grey or brown eye color in individuals of European descent.

Statin-induced myopathy
Statins are a group of compounds that are commonly prescribed by physicians for individuals with high cholesterol to reduce risk of cardiovascular diseases. While statins are generally safe and effective, there are some known side-effects. One that affects a minority of those taking statins is a muscle disease called statin-induced myopathy, the symptoms of which include muscle pain and weakness.

As always, we welcome your comments and suggestions and encourage you to visit your deCODEme account frequently to take advantage of regular updates and new features.