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A random Abstract
Our Project
Our Team
Genetic architecture of skin and eye color in an African-European admixed population.
[oculocutaneous albinism]
Variation
in
human
skin
and
eye
color
is
substantial
and
especially
apparent
in
admixed
populations
,
yet
the
underlying
genetic
architecture
is
poorly
understood
because
most
genome-
wide
studies
are
based
on
individuals
of
European
ancestry
.
We
study
pigmentary
variation
in
699
individuals
from
Cape
Verde
,
where
extensive
West
African
/
European
admixture
has
given
rise
to
a
broad
range
in
trait
values
and
genomic
ancestry
proportions
.
We
develop
and
apply
a
new
approach
for
measuring
eye
color
,
and
identify
two
major
loci
(
HERC
2
[
OCA
2
]
P
=
2
.
3
×
10
(
-
62
)
,
SLC
24
A
5
P
=
9
.
6
×
10
(
-
9
)
)
that
account
for
both
blue
versus
brown
eye
color
and
varying
intensities
of
brown
eye
color
.
We
identify
four
major
loci
(
SLC
24
A
5
P
=
5
.
4
×
10
(
-
27
)
,
TYR
P
=
1
.
1
×
10
(
-
9
)
,
APBA
2
[
OCA
2
]
P
=
1
.
5
×
10
(
-
8
)
,
SLC
45
A
2
P
=
6
×
10
(
-
9
)
)
for
skin
color
that
together
account
for
35
%
of
the
total
variance
,
but
the
genetic
component
with
the
largest
effect
(
~
44
%
)
is
average
genomic
ancestry
.
Our
results
suggest
that
adjacent
cis-acting
regulatory
loci
for
OCA
2
explain
the
relationship
between
skin
and
eye
color
,
and
point
to
an
underlying
genetic
architecture
in
which
several
genes
of
moderate
effect
act
together
with
many
genes
of
small
effect
to
explain
~
70
%
of
the
estimated
heritability
.
