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This Week in Nature: Apr 30, 2009

Two GWAS studies of autism spectrum disorders appearing in this week's early online edition of Nature have gotten a lot of mainstream press. In the first, comprising over 10,000 subjects of European ancestry, CHOP's Hakon Hakonarson's team found six SNPs on chromosome 5p14.1 between cadherin 10 and cadherin 9 to be strongly associated with ASDs. These two genes encode neuronal cell-adhesion proteins, which enable neurons to form connections with each other.

Hakonarson also performed a whole-genome CNV study on a case-control of European ancestry, finding that target genes involved in neuronal cell-adhesion or ubiquitin degradation are associated with CNVs in cases, "indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD," says the abstract. While Ed Yong thinks both studies paint a "a wonderfully coherent picture" of ASDs, Daniel MacArthur says that with an odds ratio of 1.2 for the association GWA study, "the biggest lesson from the paper is simple: the hunt for common variants underlying psychiatric diseases remains largely an exercise in frustration."

Published in Nature Genetics this week, researchers look at complex traits in Korean individuals in one of the largest GWAS to date of its kind. Surveying association SNPs for eight medically relevant traits -- body mass index (BMI), waist-to-hip ratio, height, systolic and diastolic blood pressure, pulse rate, and measures of bone density in the arm and leg -- the results show both similarities and differences between East Asians and Europeans. At Genetic Future, Daniel MacArthur thinks GWAS spanning multiple populations will lend the most value: "By surveying multiple human populations by GWAS, we increase the pool of common genetic variants -- and therefore increase the odds that any given disease pathway gene will be picked up in at least one GWAS."

In early online at Nature Biotechnology, BU's Jim Collins has a paper that used "diversity-based, model-guided" construction of gene networks and applied his method to time promoter activation in S. cerevisiae sedimentation. After screening a library of possible promoters, his team created a model that would allow them to predict promoter activity in the process of brewing beer. From this, they could create a switch that could precisely time the process.

On the lighter side, two articles cover work-life balance and data sharing. Over at Naturejobs.com, an article focuses on how the Elsevier Foundation's New Scholars grant program is helping to advance the careers of women in science by supporting them with grant funds to help balance work and family life. Recipients of these grants include the American Physical Society's Committee on the Status of Women in Physics, the Association for Women in Science, and the Maternal and Childcare Union of Tbilisi, Georgia. A review at Nature Reviews Genetics explores how the new requirement that data sharing must be a consideration of all funding applications in genomics will play out.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.