ScienceDaily puts a positive spin on the story ("Scientists are beginning to develop a clearer picture of what makes some people stand head and shoulders above the rest"), but the real story is this: despite the massive scale of these studies, they're still only capturing less than 5% of the total variance in a trait that is almost entirely (90%) genetic. This is a powerful demonstration of the inability of current GWAS technology to access the genetic variants responsible for the vast majority of heritable variation in at least some complex traits, for reasons I have previously discussed in detail.
I was wondering if there was any recent selection in the genomic regions pinpointed in the three papers, so I turned to Haplotter. Below the fold are the results....
I set Haplotter so that it looked around a 1 MB window fixed on the gene I queried. X = a hit within that window, while XX = a hit on that specific gene. The columns are pretty self-explanatory, but do note some of these genes are very close to each other. Also, I had to use aliases, and I can't guarantee that a gene isn't listed twice because of the usage of aliases. All in all, note much selection, huh? I wasn't expecting much, but nice to confirm expectations....
.
Gene
Northern European
West African
East Asian
Note
.
ACAN
-
-
-
Alias: CSPG1
.
ADAMTS17
-
-
-
.
ADAMTSL3
-
-
-
.
ANAPC13
-
-
-
.
ANKFN1
-
-
-
Alias: FLJ38335
.
ANKS1
X
-
-
.
ATAD5
-
-
-
Alias: FLJ12735
.
ATXN3
-
-
-
.
BCAS3
-
-
-
Fst - No diff. Euro-Asian in some regions
.
BMP2
-
-
-
.
BMP6
-
-
-
.
C18orf45
-
-
-
.
C1orf19
-
-
-
.
C20orf30
-
-
-
.
C6orf106
XX
-
-
.
CABLES1
-
-
-
.
CDK6
-
-
-
.
CENTA2
-
-
-
Fst - No diff. Euro-Asian in some regions
.
CEP63
-
-
-
.
CHCHD7
-
-
-
.
COIL
-
-
-
.
CPSF2
-
-
-
.
CRLF3
-
-
-
Fst - No diff. Euro-Asian in some regions
.
DCC
-
-
-
.
DEF6
-
-
-
Alias: DEFA6
.
DGKE
-
-
-
.
DLEU7
-
-
-
.
DNM3
-
-
-
.
DOT1L
-
-
-
.
DYM
-
-
-
.
E4F1
-
-
-
Lots of stuff just below p-value in region
.
EFEMP1
-
-
-
.
ERVWE1
-
-
-
Problem with haplotter
.
FBLN5
-
-
-
.
FUBP3
-
-
-
.
GATAD1
-
-
-
.
GDF5
X
X
XX
Massive selection in this genomic region in Euro & Asian
I saw this paper in Nature Genetics, Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair:
The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype;…
A few months ago I reviewed a paper which examined the various complexities of interpreting signals of natural selection from recently developed genomic tests in response to the avalanche of human sequence data. In the paper, Signals of recent positive selection in a worldwide sample of human…
In Natural selection of a human gene: FUT2 I referred to a paper, Signals of recent positive selection in a worldwide sample of human populations (see my earlier review). Now the same group has a follow up paper which takes a slightly different tack, The Role of Geography in Human Adaptation:…
Over the past few weeks I've been looking closely at all the skin color related genes in humans which have been studied over the past few years. A little over two years ago the evolutionary biologist Armand Leroi wrote:
We don't know what the differences are between white skin and black skin,…
Difference in height is 90% heritable among whom? That stat is meaningless without the group it refers to, right?
That 5% of variance explaining something that is 90% genetic is a real killer for these papers, as soon as he read that on his blog my perception of the studies was really different.
Two more years of Decode putting out these papers then we shall see no more from them :(
Difference in height is 90% heritable among whom? That stat is meaningless without the group it refers to, right?
That 5% of variance explaining something that is 90% genetic is a real killer for these papers, as soon as he read that on his blog my perception of the studies was really different.
Two more years of Decode putting out these papers then we shall see no more from them :(
Difference in height is 90% heritable among whom? That stat is meaningless without the group it refers to, right?
first world populations. i see a number closer to 80% usually, but i haven't kept track of the lit.