Category Archives: Genetics

ORMDL3 graduated

Given my sceptical view that ORMDL3 is really an asthma gene (that may be even shared by the authors of the initial association) the train has now departed with more groups speculating about ORMDL3 function.
For example this new paper by Gerard Cantero-Recasens is about the unfolded protein response (UPR) that may be triggered by a putative loss of function mutation in ORMDL3 via a Ca2+ decrease in the ER. Although I am quite intrigued about the fact that the story now moves to calcium and vitamin D, we are far away from any conclusive evidence.

Addenddum 3.3.2010

And here is another paper that associates ORMDL3 to the sphingolipid metabolism. Although that may be also an interesting pathway (given a bulk of literature not cited in the paper ( more, more, more, more) I still wonder if this is wishful thinking. The authors do not touch the main problem – the weak connection of some genomic variants in that region to ORMDL3 function to asthma pathogenesis.

 

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Unscientific World

A review of “Unscientific America” on p 678 in Science Magazine 7 Aug 2009 finds

According to Mooney and Kirshenbaum, atheistic scientists such as Richard Dawkins and P. Z. Myers [who runs the immensely popular science blog Pharyngula] drive people away from science by forcing them to choose between the facts and their faith.

 

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evo-devo-dis

I am curently working on a new lecture series on that topic – having a gut feeling that the evolutionary history will explain how and why we get diseases. Some German magazines (“Fehlkonstruktion Mensch” DER SPIEGEL 40/2009) even write about that topic quoting a forthcoming book of Ganten / Deichmann / Spahl). I will rely, however, mostly on Continue reading evo-devo-dis

 

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Lets not call it “gene-environment-interaction” anymore

(reminescence)
Gene-environment-interaction is a large bubble in complex disease research area with a label that is itself questionable. Genes do not interact with the environment (or only indirectly); the environment does not interact with genes (situations like epigenetic modification or induction of mutations are at least not meant here).
What is being meant by “gene-environment-interaction”, could be described as “genetically conditioned environmental influence” (GCEI) but not as GxE interaction… BTW is there any online list of GCEIs?

 

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Born to run

There was a news item in the Jan issue of NGR

Born to run? A DNA test to identify future sports stars. The latest personal DNA test to hit the US market, from Atlas Sports Genetics in Colorado, promises to “determine if a child would be best at speed and power sports such as football or sprinting, or endurance sports such as running”

What a nonsense! It would be even deleterious if anybody would be influenced by any genetic test to decide on physical fitness.

 

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Selfish gene – bad weeds grow tall

None of us, I think, in the mid-’70s, when “The Selfish Gene” was published, would have thought we’d be devoting so much mental space now to confront religion. We thought that matter had long been closed

is a commentary from Edge 294. Although even more British colleagues were dedicating chapters to that Dawkins meme I always found it stupid difficult to materialize a DNA regulatory unit by a personality trait – introducing another “Darwinian fairytale” (Stove). Continue reading Selfish gene – bad weeds grow tall

 

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DNA sudoku

I am a great fan of DNA pooling (mainly for cost reasons). During our recent experiments we have lost the identity of a single DNA source by pooling. Then we found that the source DNA may be tagged with a unique oligo allowing the assembler to reconstruct the DNA source from the pool. He comes another variation of The Sequencing Game

The pooling of DNA sequencing samples is not new, but current protocols rely on bar coding each sample with a short oligonucleotide, which is then used to associate a read to the correct sample. This approach is laborious, however, as a unique tag has to be created for each sample. The new method creates pools of samples, and then associates a bar code to each pool, rather than to each individual sequence.

 

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The asthma and glaucoma island

Dr. Zamel, one of the PIs of the Tristan da Cunha study pointed me today to the interesting 30 min BBC documentation online at Allergy Canada

Allergy Island is an exclusive documentary on the history of asthma in Tristan da Cunha and the discovery of the gene related to asthma in that highly inbred community by the expedition that I did in 1993. I went in May 2008 to Tristan da Cunha with the BBC crew to film both parts for the entire month.

 

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Can’t believe in a TCRA association (at the moment)

Nature genetics published recently an association paper of an of an autism researcher researcher writing here on narcolepsy

Using genome-wide association (GWA) in Caucasians with replication in three ethnic groups, we found association between narcolepsy and polymorphisms in the TRA@ (T-cell receptor alpha) locus, with highest significance at rs1154155 (average allelic odds ratio 1.69, genotypic odds ratios 1.94 and 2.55, P < 10-21, 1,830 cases, 2,164 controls). This is the first documented genetic involvement of the TRA@ locus, encoding the major receptor for HLA-peptide presentation, in any disease.

I am always cautious of these “first ever” claims Continue reading Can’t believe in a TCRA association (at the moment)

 

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