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Genome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP.
We conducted genome-wide analysis among 18 422 East Asian participants (stage 1) followed by replication study of ≤46 629 participants of European ancestry (stage 2). Significant single-nucleotide polymorphisms and genes were determined by a
<5.0×10
and 2.5×10
, respectively, in joint analyses of stage-1 and stage-2 data. We identified 1 novel
variant, rs4919669 at 10q24.32, influencing LTA systolic BP (stage-1
=5.03×10
, stage-2
=8.64×10
, joint
=2.63×10
) and mean arterial pressure (stage-1
=3.59×10
, stage-2
=2.35×10
, joint
=2.64×10
). Three previously reported BP loci (
,
, and
) were also identified for all BP phenotypes. Gene-based analysis provided the first robust evidence for association of
with LTA systolic BP (stage-1
=8.55×10
, stage-2
=1.62×10
, joint
=3.28×10
) and mean arterial pressure (stage-1
=9.19×10
, stage-2
=9.69×10
, joint
=2.15×10
) phenotypes. Fourteen genes (
,
,
,
,
,
,
,
,
-
,
,
, and
at 10q24.32;
at 12q21.33; and
at 11p15.1) implicated by previous genome-wide association study meta-analyses were also identified. Among the loci identified by the previous genome-wide association study meta-analysis of LTA BP, we transethnically replicated associations of the
marker rs1275988 at 2p23.3 with LTA systolic BP and mean arterial pressure phenotypes (
=1.27×10
and 3.30×10
, respectively).
We identified 1 novel variant and 1 novel gene and present the first direct evidence of relevance of the
locus for LTA BP among East Asians.