1. Hum Mol Genet. 2009 Aug 1;18(15):2825-38. doi: 10.1093/hmg/ddp218. Epub 2009 May
7.
Positional identification of variants of Adamts16 linked to inherited
hypertension.
Joe B(1), Saad Y, Dhindaw S, Lee NH, Frank BC, Achinike OH, Luu TV,
Gopalakrishnan K, Toland EJ, Farms P, Yerga-Woolwine S, Manickavasagam E, Rapp
JP, Garrett MR, Coe D, Apte SS, Rankinen T, Pérusse L, Ehret GB, Ganesh SK,
Cooper RS, O'Connor A, Rice T, Weder AB, Chakravarti A, Rao DC, Bouchard C.
Author information:
(1)Physiological Genomics Laboratory, Department of Physiology and Pharmacology,
University of Toledo College of Medicine, 3000 Arlington Avenue, Toledo, OH
43614-2598, USA. bina.joe@utoledo.edu
Erratum in
Hum Mol Genet. 2011 Nov 1;20(21):4297. Dhindaw, Seema [added].
A previously reported blood pressure (BP) quantitative trait locus on rat
Chromosome 1 was isolated in a short congenic segment spanning 804.6 kb. The
804.6 kb region contained only two genes, LOC306664 and LOC306665. LOC306664 is
predicted to translate into A Disintegrin-like and Metalloproteinase with
Thrombospondin Motifs-16 (Adamts16). LOC306665 is a novel gene. All predicted
exons of both LOC306664 and LOC306665 were sequenced. Non-synonymous variants
were identified in only one of these genes, LOC306664. These variants were
naturally existing polymorphisms among inbred, outbred and wild rats. The
full-length rat transcript of Adamts16 was detected in multiple tissues. Similar
to ADAMTS16 in humans, expression of Adamts16 was prominent in the kidney. Renal
transcriptome analysis suggested that a network of genes related to BP was
differential between congenic and S rats. These genes were also differentially
expressed between kidney cell lines with or without knock-down of Adamts16.
Adamts16 is conserved between rats and humans. It is a candidate gene within the
homologous region on human Chromosome 5, which is linked to systolic and
diastolic BP in the Quebec Family Study. Multiple variants, including an Ala to
Pro variant in codon 90 (rs2086310) of human ADAMTS16, were associated with human
resting systolic BP (SBP). Replication study in GenNet confirmed the association
of two variants of ADAMTS16 with SBP, including rs2086310. Overall, our report
represents a high resolution positional cloning and translational study for
Adamts16 as a candidate gene controlling BP.
PMCID: PMC2706685
PMID: 19423552 [PubMed - indexed for MEDLINE]
PUBMED: 19423552
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