Researchers from the US and The Netherlands have found ways toearlier and better prediction of diseases such as diabetes , atherosclerosis, and heart disease through studying the genetic make-up of different varieties oflipids in blood plasma. Studying the genetic make-up of different varieties of lipids(fatty molecules) in the blood plasma of an individual can lead toa better and earlier prediction of diseases such as diabetes,atherosclerosis, and heart disease, two researchers will tell theannual conference of the European Society of Human Genetics today(Monday 30 May). In the first study, Dr. Joanne Curran from theTexas Biomedical Research Institute, San Antonio, USA, will tellthe conference that lipidomic profiling will become a more reliableearly indicator of individuals likely to develop diabetes than themore commonly used predictors such as blood glucose and insulinlevels. Dr.
Curran and colleagues from the US and Australia measured 356different lipid varieties from about 1100 Mexican American membersof large extended families who were part of the San Antonio FamilyHeart Study. The Mexican American population is at high risk ofdiabetes with about 25% of this population ultimately becomingdiabetic. At the start of the research, 861 of the individualsstudied did not have diabetes. However, over the 10 year follow-upexamined in the study, 110 individuals did develop the disease.
The scientists were able to isolate 128 different varieties oflipids that predicted the progression to diabetes by measuring thethe lipidomic profiles of each individual at multiple timepointsduring the follow-up period. "The single best predictor we foundwas a novel component called dihydroceramide (dhCer). This wassubstantially increased in people with diabetes. It is alsoheritable, and appears to be an independent risk factor unconnectedto blood sugar and insulin levels," says Dr. Curran. Led Advertising Displays
After uncovering the link between dhCer and diabetes, the teamsearched the genome to find locations that harboured genes thatinfluence dhCer levels. They identified a region on chromosome 3that appeared to contain a gene with substantial importance for theproduction of dhCer. "Through whole genome sequencing, we are nowattempting to identify this causal gene in the hope that it will beinformative in the understanding of the pathogenesis of diabetes,and also suggest new avenues for treatment," Dr. Curran says. Led Screen Rental Manufacturer
In the future, the researchers say, measurement of dhCer levelscould become routine in the prediction of individuals likely tobecome diabetic. One of the difficulties of the current predictivemethods is that they do not function until a patient is near todeveloping the disease. Being able to identify those at risk at theearliest stage would mean that individuals have plenty of time tomake the lifestyle changes that could help them avoid the diseasethrough a change in diet, or increasing physical activity, forexample. "Currently one in ten US adults suffers from diabetes and recentlythe Centers for Disease Control has predicted that this willincrease to one in three by 2050", says Dr. Curved Led Screen
Curran. "We areoptimistic that our discovery will lead to new treatments, but inthe short-term the importance of finding out at an early stagewhether any individual is likely to develop it cannot beoverstated. A test based on dhCer levels will help to avoid theserious health effects that diabetes has in its own right, such askidney failure, amputations, and blindness. It is, of course, alsoa risk for cardiovascular disease, so the health burden of thiscondition is enormous", she concludes.
In the second study, Dr. Sara Willems, from the Erasmus MedicalCentre, Rotterdam, The Netherlands, will describe to the conferenceresearch carried out on the influence of common genetic lipidvariants on atherosclerosis and related heart disease. "A recentgenome-wide meta-analysis of more than 100,000 individualsidentified a large number of genetic variants associated withlevels of LDL (bad) cholesterol , HDL (good) cholesterol and triglycerides. These molecules are, atincreased levels of LDL and triglycerides and decreased levels ofHDL, important risk factors for cardiovascular disease", says Dr.Willems. The researchers used risk scores from these genetic variants totest the hypothesis that their cumulative effects were associatedwith cardiovascular disease.
For this purpose they used geneticdata from more than 8000 individuals from the population-basedRotterdam Study and more than 2000 individuals participating in theDutch family-based Erasmus Rucphen Family study. They found an association between the LDL risk score and arterialwall thickness, and a strong association of this risk score withcarotid plaque. These conditions can cause arterial blockage whichleads to stroke . The same risk score was also associated with coronary heart disease . "Our findings show that an accumulation of common genetic variantswith small effects on lipid levels can have a significant effect onclinical and sub-clinical outcomes", says Dr.
Aaron Isaacs, who ledthe project. "In the future, as our knowledge of genetic variationincreases, effective pre-clinical genetic screening tools may beable to enhance the prediction and prevention of diseases such ascardiovascular disease." New genetic variants influencing lipid levels are being identifiedall the time, the researchers say. "As new variants are discovered,we would like to be able to continue to test them, both singly andcombined, for association with cardiovascular disease. The cost ofthese diseases to individuals, families, society and healthcaresystems is immense", says Dr. Willems.
"Cardiovascular disease is the main cause of death in Europe,killing over 4 million people per year. It also represents 23% ofthe total disease burden (illness and death) across the continent.Managing cholesterol levels is important for prevention. This canbe done early in life by effective treatment. We hope that ourstudy, showing that common genetic variants play an important rolein the occurrence of cardiovascular disease, marks a starting pointfor early prediction and prevention and may thus reduce the burdenof disease," she concludes.
Sources: European Society of Human Genetics (ESHG), AlphaGalileo Foundation . Additional References Citations.
Curran and colleagues from the US and Australia measured 356different lipid varieties from about 1100 Mexican American membersof large extended families who were part of the San Antonio FamilyHeart Study. The Mexican American population is at high risk ofdiabetes with about 25% of this population ultimately becomingdiabetic. At the start of the research, 861 of the individualsstudied did not have diabetes. However, over the 10 year follow-upexamined in the study, 110 individuals did develop the disease.
The scientists were able to isolate 128 different varieties oflipids that predicted the progression to diabetes by measuring thethe lipidomic profiles of each individual at multiple timepointsduring the follow-up period. "The single best predictor we foundwas a novel component called dihydroceramide (dhCer). This wassubstantially increased in people with diabetes. It is alsoheritable, and appears to be an independent risk factor unconnectedto blood sugar and insulin levels," says Dr. Curran. Led Advertising Displays
After uncovering the link between dhCer and diabetes, the teamsearched the genome to find locations that harboured genes thatinfluence dhCer levels. They identified a region on chromosome 3that appeared to contain a gene with substantial importance for theproduction of dhCer. "Through whole genome sequencing, we are nowattempting to identify this causal gene in the hope that it will beinformative in the understanding of the pathogenesis of diabetes,and also suggest new avenues for treatment," Dr. Curran says. Led Screen Rental Manufacturer
In the future, the researchers say, measurement of dhCer levelscould become routine in the prediction of individuals likely tobecome diabetic. One of the difficulties of the current predictivemethods is that they do not function until a patient is near todeveloping the disease. Being able to identify those at risk at theearliest stage would mean that individuals have plenty of time tomake the lifestyle changes that could help them avoid the diseasethrough a change in diet, or increasing physical activity, forexample. "Currently one in ten US adults suffers from diabetes and recentlythe Centers for Disease Control has predicted that this willincrease to one in three by 2050", says Dr. Curved Led Screen
Curran. "We areoptimistic that our discovery will lead to new treatments, but inthe short-term the importance of finding out at an early stagewhether any individual is likely to develop it cannot beoverstated. A test based on dhCer levels will help to avoid theserious health effects that diabetes has in its own right, such askidney failure, amputations, and blindness. It is, of course, alsoa risk for cardiovascular disease, so the health burden of thiscondition is enormous", she concludes.
In the second study, Dr. Sara Willems, from the Erasmus MedicalCentre, Rotterdam, The Netherlands, will describe to the conferenceresearch carried out on the influence of common genetic lipidvariants on atherosclerosis and related heart disease. "A recentgenome-wide meta-analysis of more than 100,000 individualsidentified a large number of genetic variants associated withlevels of LDL (bad) cholesterol , HDL (good) cholesterol and triglycerides. These molecules are, atincreased levels of LDL and triglycerides and decreased levels ofHDL, important risk factors for cardiovascular disease", says Dr.Willems. The researchers used risk scores from these genetic variants totest the hypothesis that their cumulative effects were associatedwith cardiovascular disease.
For this purpose they used geneticdata from more than 8000 individuals from the population-basedRotterdam Study and more than 2000 individuals participating in theDutch family-based Erasmus Rucphen Family study. They found an association between the LDL risk score and arterialwall thickness, and a strong association of this risk score withcarotid plaque. These conditions can cause arterial blockage whichleads to stroke . The same risk score was also associated with coronary heart disease . "Our findings show that an accumulation of common genetic variantswith small effects on lipid levels can have a significant effect onclinical and sub-clinical outcomes", says Dr.
Aaron Isaacs, who ledthe project. "In the future, as our knowledge of genetic variationincreases, effective pre-clinical genetic screening tools may beable to enhance the prediction and prevention of diseases such ascardiovascular disease." New genetic variants influencing lipid levels are being identifiedall the time, the researchers say. "As new variants are discovered,we would like to be able to continue to test them, both singly andcombined, for association with cardiovascular disease. The cost ofthese diseases to individuals, families, society and healthcaresystems is immense", says Dr. Willems.
"Cardiovascular disease is the main cause of death in Europe,killing over 4 million people per year. It also represents 23% ofthe total disease burden (illness and death) across the continent.Managing cholesterol levels is important for prevention. This canbe done early in life by effective treatment. We hope that ourstudy, showing that common genetic variants play an important rolein the occurrence of cardiovascular disease, marks a starting pointfor early prediction and prevention and may thus reduce the burdenof disease," she concludes.
Sources: European Society of Human Genetics (ESHG), AlphaGalileo Foundation . Additional References Citations.