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X-chromosome varian...
X-chromosome variants are associated with aldosterone producing adenomas
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- Dutta, Ravi Kumar (författare)
- Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten
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- Larsson, Malin (författare)
- Linköpings universitet,Bioinformatik,Tekniska fakulteten
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- Arnesen, Thomas (författare)
- Haukeland Hosp, Norway; Univ Bergen, Norway; Univ Bergen, Norway
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- Heie, Anette (författare)
- Haukeland Hosp, Norway; Univ Bergen, Norway
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- Walz, Martin (författare)
- Klinikum Essen Mitte, Germany; Klinikum Essen Mitte, Germany
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- Alesina, Piero (författare)
- Klinikum Essen Mitte, Germany; Klinikum Essen Mitte, Germany
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- Gimm, Oliver (författare)
- Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
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- Söderkvist, Peter (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten
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(creator_code:org_t)
- 2021-05-18
- 2021
- Engelska.
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Ingår i: Scientific Reports. - : Nature Research. - 2045-2322. ; 11:1
- Relaterad länk:
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https://liu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Aldosterone-producing adenomas (APAs) are a major cause of primary aldosteronism (PA) and are characterized by constitutively producing aldosterone, which leads to hypertension. Several mutations have been identified in ion channels or ion channel-associated genes that result in APAs. To date, no studies have used a genome-wide association study (GWAS) approach to search for predisposing loci for APAs. Thus, we investigated Scandinavian APA cases (n=35) and Swedish controls (n=60) in a GWAS and discovered a susceptibility locus on chromosome Xq13.3 (rs2224095, OR=7.9, 95% CI=2.8-22.4, P=1x10(-7)) in a 4-Mb region that was significantly associated with APA. Direct genotyping of sentinel SNP rs2224095 in a replication cohort of APAs (n=83) and a control group (n=740) revealed persistently strong significance (OR=6.1, 95% CI=3.5-10.6, p<0.0005). We sequenced an adjacent gene, MAGEE1, of the sentinel SNP and identified a rare variant in one APA, p.Gly327Glu, which is complementary to other mutations in our primary cohort. Expression quantitative trait loci (eQTL) were investigated on the X-chromosome, and 24 trans-eQTL were identified. Some of the genes identified by trans-eQTL point towards a novel mechanistic explanation for the association of the SNPs with APAs. In conclusion, our study provides further insights into the genetic basis of APAs.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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