rs4711, uh rs7041

The first GWAS of human vitamin serum D level finds the most important SNPs:

In a genome-wide association study (GWAS) of 4,501 persons of European ancestry drawn from five cohorts, we identified single nucleotide polymorphisms (SNPs) in the gene encoding group-specific component (vitamin D binding) protein, GC, on chromosome 4q12-13 that were associated with 25(OH)D concentrations: rs2282679 (P=2.0 x 10–30), in LD with rs7041, a nonsynonymous SNP (D432E; P=4.1 x 10-22), and rs1155563 (P = 3.8 x 10–25).

Funny, rs7041 is the same variant Continue reading rs4711, uh rs7041

 

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Clearly biased: Maternal recall of asthma in the family

I have heard it many times on congresses and there seems now even a meta-analysis of a possible preferential maternal transmission of asthma to children. And of course, there are important biological question behind (imprinting? maternal antibody transfer?) but unfortunately this is nothing else than a spurious effect.
The author’s view is well taken that we did the first modern family study 1992 Continue reading Clearly biased: Maternal recall of asthma in the family

 

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Is buccal DNA really buccal DNA?

This is an update of the recent TCRA post herewhere I argued that TCR studies shouldn’t be done with genomic DNA from peripheral blood cells. Instead, I was arguing for buccal DNA as epithelial cells will not have undergone somatic recombination. Only last week, however, I came across an earlier letter about DNA-based assessment of chimerism after allogeneic blood stem cell transplantation (BSCT). Continue reading Is buccal DNA really buccal DNA?

 

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The seven deadly sins

So, plenty of time now for reading papers. My recommendation – the deadly sins of epidemiology by Grandjean.

What an individual is capable of may be measured by how far his understanding is from his willing. What a person can understand he must also be able to make himself will. Between understanding and willing lie the excuses and evasions (Kierkegaard).

ok, here we start:

pride – a form of self-delusion
envy and wrath – leads to ingratitude and failure to recognize other colleagues’ achievement
lust, greed, and gluttony – obsessed by seeking satisfaction and seeks frequent and limitless attention and recognition, including the highest academic titles and prizes
sloth – indifference to public health and to the welfare of others

Obviously there was a need to publish that kind of papers, yea, yea.

 

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Biotorrents

A great idea – published now at PLoS ONE today and live at www.biotorrents.net– is a significant step ahead.

The transfer of scientific data has emerged as a significant challenge, as datasets continue to grow in size and demand as open access sharing increases. Current methods for file transfer do not scale well for large files and can cause long transfer times. In this study, we present BioTorrents, a website that allows open access sharing of scientific data and uses the popular BitTorrent peer-to-peer file sharing technology. BioTorrents allows files to be transferred rapidly due to the sharing of bandwidth across multiple institutions and provides more reliable file transfers due to the built-in error checking of the file sharing technology.

Just install a BitTorrent client, read the basics at Wikipedia, and convince your computing department Continue reading Biotorrents

 

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Evolution at work

While I never found it difficult to test for bacterial micro-evolution (like in the already famous 2009 E coli paper) I have considerable problems to see this also in contemporary human populations. As an epidemiologist I am now attracted by a new PNAS paper that addresses this problem (for the first time?).

Our aims were to demonstrate that natural selection is operating on contemporary humans … To do so, we measured the strength of selection, estimated genetic variation and covariation, and predicted the response to selection for women in the Framingham Heart Study … We found that natural selection is acting to cause slow, gradual evolutionary change. The descendants of these women are predicted to be on average slightly shorter and stouter, to have lower total cholesterol levels and systolic blood pressure, to have their first child earlier, and to reach menopause later than they would in the absence of evolution.

Athough the abstract is quite clear, Continue reading Evolution at work

 

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Per aspera ad astra

My MacBook Air suddenly died after 3 days of inactivity. The reasons was probably an unattended maintenance job that filled up the 80 GB HD. At least the system became unresponsive while transfering some pictures from a camera to a picture harddisk. And after a hard reset, it let not boot me anymore. This is when the nightmare started…

An already ordered 128 GB SSD did not fit the special requirements of the 1st generation MBA (that need an 1.8” ZIF 4 PATA drive with <5mm height). There seems to be only one product on market by Photofast. Unfortunately a 128 GB HD was not available for the next 4 weeks, while the 256 GB comes at an excessive price tag Continue reading Per aspera ad astra

 

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Mozart over Beethoven

Mozart over Beethoven.
Wide over narrow.
Intelligence over beauty.
Grace over judgement.
Rough over smooth.
Night over day.
Water over wine.
Paper over screen.
Pictures over Words.
Heat over cold.
Belief over belief.
Mountains over beach.
Stars over sun.
Jesus over religion.
Silence over noise.
Straight over bow.
Love over everything.

(inspired by Pearl)

 

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The fake food hypothesis – 0.9

There seems to be more evidence for the fake food hypothesis that I raised here some years ago. It says in brief that our

food recognition process is largely fooled by pre-processed food that contains additives changing appearance, taste and smelling.

while an empirical proof is still missing. But wait there is a new study about functional ankyrin-B mutations(which are believed to be a food sensing molecule although such a link is not so strong. Anykyrin-B made by the ANK2 gene is described by Vann Bennett in Science Signalling 3/113 to be associated with type II diabetes. What’s about obesity?

 

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The 294 records the cigarette industry kept about me

badscience.net writes about at a formal review of a smoke associated effect that

found 43 [studies] in total, and overall, smoking significantly increases your risk of Alzheimers … 11 of the studies were written by people with affiliations to the tobacco industry. This wasn’t always declared, so to double check, the researchers searched on the University of California’s Legacy Tobacco Documents Library, a vast collection of scanned material which has been gathered over decades of legal action.

I didn’t know of this collection Continue reading The 294 records the cigarette industry kept about me

 

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