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Latest Single-nucleotide polymorphism Stories

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2010-05-28 07:25:00

Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease. "This gene, ISL1, plays a key role in regulating early cardiac development, so there is a compelling biological reason for investigating it as a genetic risk factor for...

2010-05-04 15:33:25

Most people associate serotonin with brain neurology, but over 95 percent of the body's serotonin occurs in the gastrointestinal tract, which has a complex neuronal circuit that has been called "the second brain" of the body. Now a Mayo Clinic research team has identified a number of genetic variants in serotonin genes that impact irritable bowel syndrome or IBS. The findings were presented today at Digestive Disease Week 2010 in New Orleans. IBS is one of the most common chronic disorders of...

2010-04-29 14:39:00

-- New Approach Also Specifies Results for Individual Patients -- PHILADELPHIA, April 29 /PRNewswire-USNewswire/ -- In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the culprits may be numerous rare variants, located in DNA sequences farther away from the original "hot spots" than scientists have been accustomed to look....

2010-04-25 12:29:00

REYKJAVIK, Iceland, April 25, 2010 /PRNewswire-FirstCall/ -- Cigarette smoking is a major cause of illness and death worldwide. But it is a complex behavior, and how much people smoke, how hard they find it to quit, and the impact of long-term smoking on health varies greatly among individuals. A substantial portion of this variability is genetic. Two years ago, deCODE discovered the first common, single-letter variation (SNP) in the sequence of the human genome, on chromosome 15q25,...

2010-03-23 09:44:16

Grapes are one of the world's most economically important fruit crops, but the woody perennial takes three years to go from seed to fruit, and that makes traditional breeding expensive and time-consuming. A team of Agricultural Research Service (ARS) researchers has found a way to speed things up by developing a way to identify genetic markers in the grapevine's genome that can be linked with specific traits, such as fruit quality, environmental adaptation, and disease and pest resistance....

2010-03-19 10:41:45

Researchers are only beginning to understand how individual variation in gene regulation can have a lasting impact on one's health and susceptibility to certain diseases. Now, an ambitious survey of the human genome has identified differences in the binding of master regulators called transcription factors to DNA that affect how genes are expressed in different people. The study, which is published in the March 18, 2010, issue of Science, looked at two common transcription factors. HHMI...

2010-03-01 15:46:48

Alcohol dependence (AD) is a complex disease for which both genetic and environmental factors affect susceptibility. Previous research had identified several genes associated with AD through linkage analysis or candidate-gene approaches. Findings from a genome-wide association study (GWAS) support an association between AD and a cluster of genes on chromosome 11. Results will be published in the May 2010 issue of Alcoholism: Clinical & Experimental Research and are currently available at...

2010-02-25 15:17:51

Researchers from the Ohio State University have developed a rapid, multiplexed genotyping method to identify the single nucleotide polymorphisms (SNPs) that affect warfarin dose. The related report by Yang et al, "Rapid Genotyping of SNPs Influencing Warfarin Drug Response by SELDI-TOF Mass Spectrometry," appears in the March 2010 issue of the Journal of Molecular Diagnostics. Warfarin is an anti-coagulant that is commonly used to prevent blood clots and embolism. However, warfarin dosing is...

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2010-02-19 14:55:00

A few minor variations in one gene may make a difference in athletic endurance, according to a new study from Physiological Genomics. The study found that elite endurance athletes were more likely to have variations of the NRF2 gene than elite sprinters. Non-elite endurance athletes were also more likely to have the genetic variations compared to sprinters, although the difference was not as pronounced. The study shows an association between the gene variation and endurance, but does not...

2010-02-18 08:58:21

Analyzing the genomic structure of five men descended from the hunter-gatherers of southern Africa "“ including famed South African Bishop Desmond Tutu "“ reveals surprising ways in which the genetic codes of these groups differ from others in the world and from each other, said a consortium of experts including those from Baylor College of Medicine in a report that appears today in the journal Nature. In the report, the group describes the fully sequenced genomes of an individual...