SNPing scientists

OK - i make no apologies for this post, even if it is not going to directly improve your performance in the end of year exams, this is such an important topic that i cannot let it go.

i find it laughable that you can graduate from 'London's Global University', the 4th best higher education institution in the world, with 3 science degrees (MB, BS, BSc), without knowing the significance of a SNP!

for those of you who might want to do science properly, this is crucial, for everyone else, this is part of the future of medicine

wikipedia has a simple explanation [be careful - the first google link takes you to the scottish national party]

Science hailed human genetic variation as the breakthrough of the year in 2007, and the lancet among others had the wellcome trust case control consortium genome-wide association scan as its paper of the year

[interestingly enough its breakthrough of the year 2009 was Ardipithecus ramidis, an early hominin species, that researchers published on last october (suwa et al, 2009) - they found a skeleton in 1994 & spent 16 years examining it - 'Ardi' a 50kg female lived 4-4.5 million years ago, about a million years before Australopithecus Lucy]

as william summerskill put it in an editorial:

"Despite the many excellent papers from prestigious scientific and medical journals, the choice this year was remarkably straightforward. After ranking the papers, more than half of The Lancet‘s editors had the same first choice: The Wellcome Trust Case Control Consortium’s Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Indeed, as soon as this study was published, the fi ndings created repercussions in the medical,6 scientific, and popular press."

the point about SNPs is that they represent a new way of working out human variation, one that was only possible because of the human genome project. more methods are coming, eg epigenetics. this is currently where we are at when it comes to 'personalised medicine', the holy grail of targeted, individualised diagnosis & therapy

when it comes to COPD, there has been some interesting work, for example looking at variants of an enzyme that breakdown extra-cellular matrix (MMP12), hunninghake et al 2009 (+ accompanying editorial by brusselle).

in this study a minor allele [do you know what this is?] was associated with some protection from developing COPD

there have been other studies looking at this & other genes on COPD & asthma (eg sleiman et al 2010, moffat et al 2007, he et al 2009)

a quick search on HapMap shows that the frequency of the AA genotype varies with population, for example 98% of the Japanese population have wild type AA (& therefore higher risk), while in the European population (actually taken from resident in Utah) it is only 80%

does this mean that Japanese people are at higher risk for COPD?

maybe - but MMP12 is only one part of the puzzle

whatever the answer in COPD, our 'stock' has a direct bearing on our health (& diseases) - and that is one reason to be aware of where we came from


Salaam


sabih