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Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
[familial hypocalciuric hypercalcemia]
Serum
calcium
levels
are
tightly
regulated
.
We
performed
genome-
wide
association
studies
(
GWAS
)
in
population-based
studies
participating
in
the
CHARGE
Consortium
to
uncover
common
genetic
variations
associated
with
total
serum
calcium
levels
.
GWAS
of
serum
calcium
concentrations
was
performed
in
20
611
individuals
of
European
ancestry
for
∼
2
.
5
million
genotyped
and
imputed
single
-nucleotide
polymorphisms
(
SNPs
)
.
The
SNP
with
the
lowest
P-
value
was
rs
17251221
(
P
=
2
.
4
*
10
(
-
22
)
,
minor
allele
frequency
14
%
)
in
the
calcium-sensing
receptor
gene
(
CASR
)
.
This
lead
SNP
was
associated
with
higher
serum
calcium
levels
[
0
.
06
mg
/
dl
(
0
.
015
mmol
/
l
)
per
copy
of
the
minor
G
allele
]
and
accounted
for
0
.
54
%
of
the
variance
in
serum
calcium
concentrations
.
The
identification
of
variation
in
CASR
that
influences
serum
calcium
concentration
confirms
the
results
of
earlier
candidate
gene
studies
.
The
G
allele
of
rs
17251221
was
also
associated
with
higher
serum
magnesium
levels
(
P
=
1
.
2
*
10
(
-
3
)
)
,
lower
serum
phosphate
levels
(
P
=
2
.
8
*
10
(
-
7
)
)
and
lower
bone
mineral
density
at
the
lumbar
spine
(
P
=
0
.
038
)
,
but
not
the
femoral
neck
.
No
additional
genomic
loci
contained
SNPs
associated
at
genome-
wide
significance
(
P
<
5
*
10
(
-
8
)
)
.
These
associations
resemble
clinical
characteristics
of
patients
with
familial
hypocalciuric
hypercalcemia
,
an
autosomal-dominant
disease
arising
from
rare
inactivating
mutations
in
the
CASR
gene
.
We
conclude
that
common
genetic
variation
in
the
CASR
gene
is
associated
with
similar
but
milder
features
in
the
general
population
.
Diseases
Validation
Diseases presenting
"femoral neck"
symptom
adrenal incidentaloma
aromatase deficiency
congenital adrenal hyperplasia
cutaneous mastocytosis
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
kallmann syndrome
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