Navigation Links
Study identifies genetic basis of human metabolic individuality
Date:10/26/2011

NEW YORK -- In what is so far the largest investigation of its kind, researchers uncovered a wide range of new insights about common diseases and how they are affected by differences between two persons' genes. The results from this study could lead to highly targeted, individualized therapies.

Led by researchers from Weill Cornell Medical College in Qatar and published in a recent edition of the journal Nature, the study provides details on the genetics behind many diseases, including cardiovascular and kidney disorders, diabetes, cancer, gout, thrombosis and Crohn's disease, and elucidates the role that individual differences in metabolism play in these disorders.

Disturbances in metabolism are at the root of a variety of human afflictions and complex diseases. Although many of the genes that contribute to these conditions have been identified since the completion of the Human Genome Project in 2003, it is still not known how metabolic disorders related to these genetic aberrations disrupt cellular processes.

One hundred years ago, Archibald Garrod, one of the fathers of modern biochemistry, realized that inborn errors in human metabolism are "merely extreme examples of variations of chemical behavior which are probably everywhere present in minor degrees" and that this "chemical individuality [confers] predisposition to and immunities from the various mishaps which are spoken of as diseases." Ever since, identification of the genetic basis of human chemical individuality has been elusive.

Now researchers addressed this challenge by using a new technology, called metabolomics. They measured the levels of more than 250 biochemical compounds in over 60 metabolic pathways, including lipids, sugars, vitamins, amino acids and others in blood from over 2,800 individuals. They then combined this dataset with information on more than 600,000 genetic variants (SNPs) that were detected in the genes of each of the study participants. Most of the SNPs were located in genes known to encode proteins involved in the relevant metabolic pathways. Fifteen of the SNPs had previously been associated with metabolism-related conditions, such as cardiovascular disease, kidney disease, gout, diabetes, gastrointestinal diseases, cancer and adverse drug reactions. But the new findings also uncovered a wealth of new associations that link the genetic makeup of a person to his or her biochemical capacities. This data is publicly available in an online database, accessible at http://www.gwas.eu.

Given the exceptional size of the dataset, the researchers prioritized the data to focus on 37 SNPs that were most strongly associated with metabolic traits, 23 of which had never been described before. The 37 SNPs had very large effects on the individuals' metabolite levels and can be considered to constitute what the authors call the "genetic basis of human metabolic individuality."

First author Dr. Karsten Suhre, professor of physiology and biophysics and director of the Bioinformatics Core at Weill Cornell Medical CollegeQatar, says, "These findings will enable researchers to identify new and potentially relevant metabolic processes and pathways. Two highly sophisticated biochemical measurement methods -- genetics and metabolomics -- applied to only two drops of blood can reveal deep insights into the genetic make up of our metabolic capacities. In addition to providing functional insights into the genetic basis of metabolic traits and complex diseases, this information is a way to understand an individual's uniqueness so as to develop highly targeted, personalized therapies and enable novel types of treatments or prevent adverse drug reactions."


'/>"/>
Contact: John Rodgers
jdr2001@med.cornell.edu
212-821-0560
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
Source:Eurekalert

Related medicine news :

1. Study indicates nanoparticles could help pain-relieving osteoarthritis drugs last longer
2. Study shows why underrepresented men should be included in binge eating research
3. Some Asthma Drugs Raise Risk of Complications, Especially in Kids: Study
4. Sleepy Teens More Prone to Weight Gain: Study
5. Scott & White Healthcare and American Cancer Society enter into partnership for prevention study
6. IADR/AADR publish study on dental caries vaccine
7. Penn study explains paradox of insulin resistance genetics
8. Wayne State University study of heroin users to examine links between stress, drug use
9. Study Casts Doubt on Hot Dogs Link to Colon Cancer
10. Study: Obesity limits effectiveness of flu vaccines
11. Soft Drinks Linked to Violent Tendencies in Teens: Study
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/21/2017)... TX (PRWEB) , ... April 21, 2017 , ... ... Care products, announced an exciting new partnership with the highly regarded and well ... Airway Management’s highly innovative, myTAP & myTAP PAP Nasal Pillow Mask, and will ...
(Date:4/21/2017)... Malvern, Worcestershire, UK (PRWEB) , ... April 21, ... ... Queen’s Award for Enterprise in the category of International Trade, the UK’s most ... performance in international trade, which represents 95% of total revenues and has grown ...
(Date:4/21/2017)... Ramon, CA (PRWEB) , ... April 21, 2017 , ... ... might not understand the estate planning process, or where to even begin. “Now more ... unresolved if you are to properly protect yourself and your family,” said attorney Lisa ...
(Date:4/21/2017)... , ... April 21, 2017 , ... Westside Dental ... personalized dental care since 1985. After thirty-two years, Dr. Latner has become one of ... help my numerous clients over the years with all their dental needs,” said Dr. ...
(Date:4/21/2017)... (PRWEB) , ... April 21, 2017 , ... Each year, ... is a day to clean, plant trees and look forward to a better future. ... just about doing something outdoors. Indoor air quality can be two to five times ...
Breaking Medicine News(10 mins):
(Date:4/19/2017)... Calif. , April 19, 2017  IRIDEX Corporation ... will release financial results for the first quarter 2017 ... 2017.  The Company,s management team will host a corresponding ... p.m. ET. Investors interested in listening to ... 707-0665 for domestic callers or (703) 326-3030 for international ...
(Date:4/19/2017)... -- The Global Effective Microorganisms (EM) Market by ... covered and analysed the potential of Global Effective Microorganisms (EM) ... and growth factors. The report identifies and analyses the emerging ... global market. ... Tables and Figures, 6 Major Company Profiles, spread across 124 ...
(Date:4/19/2017)... 19, 2017  Novartis today announced the publication ... Lung, and Blood Institute (NHLBI) of the National ... patients with treatment-naïve severe aplastic anemia (SAA) achieved ... eltrombopag at the initiation of and concurrently with ... three sequential treatment groups, or cohorts. Cohort 3 ...
Breaking Medicine Technology: