Gene Variation and Coffee Consumption

Individuals who have a genetic variation associated with slower caffeine metabolism appear to have an increased risk of non-fatal heart attack associated with higher amounts of coffee intake, according to a study in the March 8 issue of JAMA.

Caffeine is metabolized primarily by the enzyme cytochrome P450 1A2 (CYP1A2) in the liver. Variations of the gene for this enzyme can slow or quicken caffeine metabolism. Carriers of the gene variant CYP1A2*1F allele are "slow" caffeine metabolizers, while individuals with the gene variant CYP1A2*1A allele are "rapid" caffeine metabolizers.

Among the slow metabolizers, younger individuals showed an increased risk.
Among the fast metabolizers who were younger than 59 years of age, those who drank 1 cup/d or 2 to 3 cups per day had a reduced odds of a heart attack.

Coffee consumption linked to increased risk of heart attack for persons with certain gene variation


Hands Off Our Ovaries

March 8, 2006 -- March 8th, International Women's Day, a coalition of pro-choice and pro-life women, concerned at the growing exploitation of women in biotechnology will launch a new campaign against the harvesting and marketing of human eggs. The campaign. "Hands off our ovaries!" will highlight the short and long-term risks involved in egg harvesting and its significance for the health and dignity of women.

"Biotechnological research and development affects women more profoundly than men. Human embryonic cloning and a spectrum of reproductive technologies including sex-selection and designer baby methods directly affect women's health and safety, often adversely. "

Hands Off Our Ovaries

VCs Backing Prenatal Products

Ikonisys grabs $10M in venture funding to bring its prenatal diagnostic products to market.

Medical tech company Ikonisys said Wednesday it raised $10 million in a fourth round of venture funding to push its prenatal diagnostic products through the federal approval process and to market.

The financing will be used to complete the development of a test that will allow noninvasive prenatal detection of chromosome abnormalities. “We will be able to detect fetal cells that circulate in the maternal blood during pregnancy and to do diagnosis for chromosome abnormalities on those cells,” said Ikonisys CEO Dr. Petros Tsipouras.

fastFISH™ amnio provides automated detection of the most common chromosomal aneuploidies for chromosomes 21 (Down syndrome), 18 (Edward syndrome), 13 (Patau syndrome) as well as for numerical aberrations for sex chromosomes X and Y.

fastFISH™-PGD product provides automated pre-implantation genetic diagnosis of numerical aberrations in nine different chromosomes (13, 15, 16, 17, 18, 21, 22, X, and Y) in a single blastomere obtained from the embryo following in vitro fertilization and before implantation. Recent studies have shown that selection of chromosomally normal embryos for implantation, through chromosome FISH analysis, almost doubles the term birth rate, from 10% to approximately 20%.

will offer automated quantification of the Her-2/Neu gene an established prognostic indicator in breast cancer.

Chromotest™ will offer prenatal diagnosis of major chromosomal abnormalities using fetal cells circulating in the maternal blood.
Ikonisys' solution is non-invasive, can be administered in the first trimester of pregnancy, with a turn-around time of three days.

RED HERRING | VCs Backing Prenatal Products


Coffee Shop Offers DNA Testing

(AP) CAMDEN, NJ A few blocks from family court and state child welfare offices in this downtrodden city, a coffee shop is serving up more than lattes and muffins: DNA tests are also on the menu.

It’s an unusual combination, to be sure, but one that City Coffee owner and uber-entrepreneur Ronald Ford says makes sense.

Behind the coffee bar, Ford’s employees swab the mouths of clients and the people they want to check for a possible DNA link. The samples are sent to a lab in Texas, and results come back within a week. His fee for the service starts at $550.

Once tax season winds down, he plans on doing more advertising about the DNA testing. He’s also offering pay-in-advance plans.

Ford has found his businesses are helping each other. Some DNA test clients were referred to him by their lawyers, who are regulars at Ford’s coffeehouse.

CBS 3 - Philadelphia's Source For Breaking News, Weather, Traffic and Sports: Camden Shop Offers Coffee - And DNA Testing

Human genome reveals evidence of recently evolving genes

By scanning the entire human genome in search of genetic variations that may signal recent evolution, University of Chicago researchers found more than 700 genetic variants that may be targets of recent natural positive selection during the past 10,000 years of human evolution.

Published online March 7, 2006, in the Public Library of Science-Biology in a paper, titled "A Map of Recent Positive Selection in the Human Genome," the researchers found widespread evidence of evolution in all of the populations studied.

The data analyzed here were collected by the International HapMap Project and consist of genetic data from 209 unrelated individuals who are grouped into three distinct populations: 89 East Asians, 60 Europeans, and 60 Yorubans from Nigeria. The researchers found roughly the same number of signals of positive selection within each population. They also found that each population shares about one fifth of the signals with one or both of the other groups.

Among the more than 700 signals the team found were previously known sites of recent adaptation, such as the salt-sensitive hypertension gene and the lactase gene--the strongest signal in the genome hunt. The lactase mutation, which enables the digestion of milk to continue into adulthood, appeared in approximately 90 percent of Europeans.

The team used the PANTHER (Protein ANalysis THrough Evolutionary Relationships) Classification System to classify all the genes in the genome by their biological functions into 222 categories.

Other processes that show signals of selection include genes related to metabolism of foreign compounds, brain development and morphology. For example, the researchers found five genes involved in skin pigmentation that show evidence of positive selection in Europeans.

Among East Asians, the researchers found a strong signal of selection in the alcohol dehydrogenase (ADH) cluster, the enzymes that break down alcohol. It's widely known that many East Asians have a mutation in a related gene that renders this pathway nonfunctional.

"That's why a lot of East Asians can't metabolize alcohol," Pritchard said, "but mutations in this pathway must have some additional positive effect that has been favored by natural selection."

University of Chicago Hospitals: Scan of human genome reveals evidence of more than 700 recently evolving genes


Smoking & gene avert Parkinson's

It has long been known that smoking offers some protection against developing Parkinson's disease and now a Queensland University of Technology PhD researcher has found out part of the reason why.

Yifu Deng of QUT's School of Public Health studied the interplay between genetics, smoking and the development of Parkinson's disease with 400 people who had Parkinson's disease and 400 people without it.

He found that smokers with the gene who metabolised the cigarette smoke compounds quickly were less likely to be protected than those who metabolised the chemical compounds more slowly.

Dr Deng looked at the genetic background of individuals in each group for the presence of the CYP2D6 gene, which had previously been suggested to metabolise the chemical compounds found in cigarette smoke, in both groups.

Genetic perversity: Smoking & gene avert Parkinson's


Genetic Explains 74 percent of age-related macular degeneration

A new study, led by researchers at Columbia University Medical Center, pinpoints the role that two genes – Factor H and Factor B – play in the development of nearly three out of four cases of age-related macular degeneration (AMD), a devastating eye disease that affects more than 10 million people in the United States.

Findings indicate that 74 percent of AMD patients carry certain variants in one or both genes that significantly increase their risk of this disease.

While Factor H is an inhibitor of the immune response to infection, Factor B is an activator. Because of the complementary roles of the these two genes, a protective Factor B variation can protect against AMD, even if one carries a risk-increasing variant of Factor H, and vice versa.

"I am not aware of any other complex disorder where nearly 75 percent of genetic causality has been identified," said Dr. Rando Allikmets, who is senior author of the paper.

More than 50 million people worldwide are estimated to have irreversible blindness as a result of macular degeneration, making it the most common cause of blindness for those over 60. It's estimated that 30 percent of the population will have some form of AMD by the time they reach the age of seventy-five. The disease is marked by a progressive loss of central vision due to degeneration of the macula--a region of the retina and the area responsible for fine, central vision.

New genetic discovery explains 74 percent cases of age-related macular degeneration

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