Navigation Links
Study identifies genetic basis of human metabolic individuality

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

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
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College

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:
(Date:11/30/2015)... ... ... According to research by the National Association of Dental ... certified or obtain continuing education. To increase awareness of the lack of standards ... inform dentists that the technicians they trust could lack the skills and knowledge ...
(Date:11/30/2015)... ... November 30, 2015 , ... ... The directory is specialized and only includes chiropractic clinics in the US. , ... and trustworthy alternative health practitioner when back pain sets in. When people are ...
(Date:11/30/2015)... ... November 30, 2015 , ... ... experience this summer, ushering in a new era of publicly accessible automated technology. ... shuttle, will continue to offer guests an up-close look at the shuttle at ...
(Date:11/30/2015)... ... November 30, 2015 , ... ... for Halloween festivities, the Word of Life Christian Church of Flint, MI, hosted ... featuring a giant 1.25 ton pile of candy dubbed “Candy Mountain”. , A ...
(Date:11/30/2015)... ... November 30, 2015 , ... In an effort ... to access life-saving information provided directly from top experts in mesothelioma, in ... individual conferences in three major cities: Houston, San Francisco, and Chicago. , ...
Breaking Medicine News(10 mins):
(Date:11/30/2015)... Die MEDTEC Japan 2016, ... Entwicklung und Herstellung medizinischer Geräte, findet ... in Tokyo ... Foto: ... --> ...
(Date:11/30/2015)... , Nov. 30, 2015 Nevro Corp. (NYSE: ... providing innovative evidence-based solutions for the treatment of chronic pain, ... at the U.S. Patent and Trademark Office (USPTO) has denied ... Patent No. 8,359,102 (the ,102 patent).  ... unit of Boston Scientific Corporation filed two petitions challenging the ...
(Date:11/30/2015)... , Nov. 30, 2015   Royal ... announced the launch of Radiology Solutions, a fully ... Radiology Solutions comprises customized, data-driven practice management approaches ... to help radiology practices improve care delivery and ... 2015 Radiological Society of North America Annual Meeting ...
Breaking Medicine Technology: