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@article{Portilla-Fernandez:2022:hmg/ddac051,
author = {Portilla-Fernandez, E and Klarin, D and Hwang, S-J and Biggs, ML and Bis, JC and Weiss, S and Rospleszcz, S and Natarajan, P and Hoffmann, U and Rogers, IS and Truong, QA and Völker, U and Dörr, M and Bülow, R and Criqui, MH and Allison, M and Ganesh, SK and Yao, J and Waldenberger, M and Bamberg, F and Rice, KM and Essers, J and Kapteijn, DMC and van, der Laan SW and de, Knegt RJ and Ghanbari, M and Felix, JF and Ikram, MA and Kavousi, M and Uitterlinden, AG and Roks, AJM and Danser, AHJ and Tsao, PS and Damrauer, SM and Guo, X and Rotter, JI and Psaty, BM and Kathiresan, S and Völzke, H and Peters, A and Johnson, C and Strauch, K and Meitinger, T and O'Donnell, CJ and Dehghan, A and VA, Million Veteran Program},
doi = {hmg/ddac051},
journal = {Human Molecular Genetics},
pages = {3566--3579},
title = {Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study},
url = {http://dx.doi.org/10.1093/hmg/ddac051},
volume = {31},
year = {2022}
}

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TY  - JOUR
AB  - Progressive dilation of the infrarenal aortic diameter is a consequence of the ageing process and is considered the main determinant of Abdominal Aortic Aneurysm (AAA). We aimed to investigate the genetic and clinical determinants of abdominal aortic diameter (AAD). We conducted a meta-analysis of genome-wide association studies in ten cohorts (n = 13 542) imputed to the 1000 Genome Project reference panel including 12 815 subjects in the discovery phase and 727 subjects (PBIO) as replication. Maximum anterior-posterior diameter of the infrarenal aorta was used as AAD. We also included exome array data (n = 14 480) from seven epidemiologic studies. Single-variant and gene-based associations were done using SeqMeta package. A Mendelian randomization analysis was applied to investigate the causal effect of a number of clinical risk factors on AAD. In GWAS on AAD, rs74448815 in the intronic region of LDLRAD4 reached genome-wide significance (beta = -0.02, SE = 0.004, p-value = 2.10 × 10-8). The association replicated in the PBIO1 cohort (p-value = 8.19 × 10-4). In exome-array single-variant analysis (p-value threshold = 9 × 10-7), the lowest p-value was found for rs239259 located in SLC22A20 (beta = 0.007, p-value =1.2 × 10-5). In the gene-based analysis (p-value threshold = 1.85 × 10-6), PCSK5 showed an association with AAD (p-value = 8.03 × 10-7). Furthermore, in Mendelian randomization analyses, we found evidence for genetic association of pulse pressure (beta = -0.003, p-value = 0.02), triglycerides (beta = -0.16, p-value = 0.008) and height (beta = 0.03, p-value<0.0001), known risk factors for AAA, consistent with a
AU  - Portilla-Fernandez,E
AU  - Klarin,D
AU  - Hwang,S-J
AU  - Biggs,ML
AU  - Bis,JC
AU  - Weiss,S
AU  - Rospleszcz,S
AU  - Natarajan,P
AU  - Hoffmann,U
AU  - Rogers,IS
AU  - Truong,QA
AU  - Völker,U
AU  - Dörr,M
AU  - Bülow,R
AU  - Criqui,MH
AU  - Allison,M
AU  - Ganesh,SK
AU  - Yao,J
AU  - Waldenberger,M
AU  - Bamberg,F
AU  - Rice,KM
AU  - Essers,J
AU  - Kapteijn,DMC
AU  - van,der Laan SW
AU  - de,Knegt RJ
AU  - Ghanbari,M
AU  - Felix,JF
AU  - Ikram,MA
AU  - Kavousi,M
AU  - Uitterlinden,AG
AU  - Roks,AJM
AU  - Danser,AHJ
AU  - Tsao,PS
AU  - Damrauer,SM
AU  - Guo,X
AU  - Rotter,JI
AU  - Psaty,BM
AU  - Kathiresan,S
AU  - Völzke,H
AU  - Peters,A
AU  - Johnson,C
AU  - Strauch,K
AU  - Meitinger,T
AU  - O'Donnell,CJ
AU  - Dehghan,A
AU  - VA,Million Veteran Program
DO  - hmg/ddac051
EP  - 3579
PY  - 2022///
SN  - 0964-6906
SP  - 3566
TI  - Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study
T2  - Human Molecular Genetics
UR  - http://dx.doi.org/10.1093/hmg/ddac051
UR  - https://www.ncbi.nlm.nih.gov/pubmed/35234888
UR  - https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddac051/6540720
UR  - http://hdl.handle.net/10044/1/96289
VL  - 31
ER  -

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