Genetic variants and breast cancer risk, genetics and suicidal behavior, and moreLinkage disequilibrium mapping of CHEK2: Common variation and breast cancer risk
Remember BRCA1, APC, and p53? The association between rare variants in those genes and familial breast cancer, colon cancer, and multiple cancers, respectively, had been reported over 10 years ago. Initially, many scientists had assumed that more common variants in these and other genes that have high-risk variants associated with familial cancers exist that would convey a more moderate risk to their carriers. For most of the famous "cancer genes", however, that doesn't seem to be the case. Jianjin Liu and colleagues from the Genome Institute of Singapore, the Karolinska Institute in Stockholm, and the University of Leeds, now report that CHEK2, a gene whose rare variants had been linked more recently to familial breast cancer, does not seem to have common variants linked to breast cancer either.
They studied the CHEK2 gene in a group of women in Sweden. They started by identifying common variants by determining the sequence of the gene in 92 postmenopausal women. Having found six common variants, they then compared their frequency in a group of approximately 1,500 women with breast cancer and another group of 1,500 women, of the same age and with similar lifestyles, without the disease. The results found no link between women who had the common CHEK2 variants and an increased risk of getting breast cancer. We know that there are genetic factors that influence a women's breast cancer risk. However, the genetic variants responsible are proving very difficult to find, and so far the familial cancer genes have not turned out to help much.
Citation: Einarsdóttir K, Humphreys K, Bonnard C, Palmgren J, Iles MM, et al. (2006) Linkage disequilibrium mapping of CHEK2: Common variation and breast cancer risk. PLoS Med 3(6): e168.
PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030168
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ApoE plasma levels and risk of cardiovascular mortality in old age
Studying 561 patients who were 85 years and older, Simon Mooijaart and colleagues (from Leiden University Medical Center) found that, at least in old age, high apoE concentrations in the blood were associated with an increased risk of death from cardiovascular disease. ApoE is a protein present in the blood that influences how cholesterol and other fats are made and removed from the body. ApoE can also have an effect on inflammation.
All patients gave blood samples within a month after their 85th birthday and then every following year within a month of their birthday. Within the five years of the study, 159 participants died, 68 of them from cardiovascular disease.
The researchers found that those patients who had high levels of apoE in their blood at age 85 had a higher risk of later death from cardiovascular disease. This higher risk was independent of which version of the APOE gene the patients had. It was also independent of their lipid levels (including cholesterol) and other known risk factors such as smoking and diabetes.
Citation: Mooijaart SP, Berbée JFP, van Heemst D, Havekes LM, de Craen AJM, et al. (2006) ApoE plasma levels and risk of cardiovascular mortality in old age. PLoS Med 3(6): e176. DOI: 10.1371/journal.pmed.0030176
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FROM THE PLOS MEDICINE MAGAZINE SECTION:
A new approach to exploring the genetics of suicidal behaviour
"A deeper understanding of the biology of suicidal behavior may facilitate the development of new pharmacological interventions that could be targeted at vulnerable individuals, potentially saving thousands of lives," say Jonathan Savitz and colleagues from the University of Cape Town. Identifying the genes that contribute to the risk for suicidal behavior is an integral part of this process, say the authors.
While "tantalizing genetic clues" are beginning to emerge on the genetics of suicide, they say, research on this topic has been hindered by problems such as the difficulty in replicating data. They outline a new approach to exploring the genetics of suicidal behavior--"endophenotyping."
Endophenotyping involves trying to identify an intermediate trait that lies somewhere on the developmental pathway from genes to phenotype. If suicide is the phenotype of interest--the final product of different genetic and environmental factors--then the "endophenotype" is a more elementary trait that is tightly correlated with suicide. "An understanding of the molecular basis of the endophenotype," say Savitz and colleagues, "should theoretically be the first step towards the larger prize: uncovering the molecular basis of the phenotype itself." The authors discuss the possibility that personality traits could be an endophenotype for investigating the genetic basis of suicidal behavior.
Citation: Savitz JB, Cupido C-L, Ramesar RS (2006) Trends in suicidology: Personality as an endophenotype for molecular genetic investigations. PLoS Med 3(5): e107.
PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030107
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University of Cape Town
Institute of Infectious Disease and Molecular Medicine
UCT/MRC Human Genetics Research Unit
Cape Town, South Africa
Promoting regional health cooperation in South Asia
"South Asia has a long history of hostility and mistrust among its nations, and heavy governmental spending on defense has diverted resources away from investing in health and education," says Rana Jawad Asghar (US Centers for Disease Control and Prevention). Forty percent of people in South Asia live on less than one dollar per day, he says, half of all children below the age of five years are malnourished, and the region's 45% illiteracy rate is the highest in the world.
"One of the ways in which health professionals can help to improve this poor state of public health in South Asia is through regional cooperation and collaboration," says Asghar. "This spirit of cooperation was the driving force behind the formation in 1999 of the South Asian Public Health Forum." This independent voluntary organization aims to improve communication and interaction between public health professionals working in South Asia or those working outside the region who have an interest in South Asia. It also disseminates public health information to the broader public. Asghar discusses why the forum was launched, how it operates, the impact that it has had, and the challenges it faces.
Citation: Asghar RJ (2006) Promoting regional health cooperation: The South Asian Public Health Forum. PLoS Med 3(5): e108.
PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030108
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Rana Jawad Asghar
Coordinator of the South Asian Public Health Forum
Centers for Disease Control and Prevention
Atlanta, Georgia, United States of America
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Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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