Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm

Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequ...

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Veröffentlicht in:European journal of human genetics : EJHG 2021-07, Vol.29 (7), p.1129-1138
Hauptverfasser: Li, Yang, Kong, Yu, Duan, Weixun, Yu, Shiqiang, Zhou, Xinmin, Hu, Yerong, Ou, Jing-Song, Yi, Dinghua, Xie, Jinsheng, Zhu, Junming, Sun, Lizhong, Li, Yulin, Du, Jie
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container_issue 7
container_start_page 1129
container_title European journal of human genetics : EJHG
container_volume 29
creator Li, Yang
Kong, Yu
Duan, Weixun
Yu, Shiqiang
Zhou, Xinmin
Hu, Yerong
Ou, Jing-Song
Yi, Dinghua
Xie, Jinsheng
Zhu, Junming
Sun, Lizhong
Li, Yulin
Du, Jie
description Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. The genotype-phenotype correlations may complement the risk stratification of iTAAD patients and identification of higher risk subgroups, as well as assist the development of tailored precision medicine in iTAAD.
doi_str_mv 10.1038/s41431-021-00857-2
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However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. 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Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. 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However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. 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subjects Adult
Age of Onset
Aged
Aged, 80 and over
Alleles
Aortic Aneurysm, Thoracic - diagnosis
Aortic Aneurysm, Thoracic - genetics
Aortic aneurysms
Biochemistry & Molecular Biology
China
Dissection
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genetics & Heredity
Genotypes
Heart Function Tests
Humans
Life Sciences & Biomedicine
Male
Middle Aged
Patients
Phenotypes
Precision medicine
Prognosis
Risk factors
Risk groups
Science & Technology
Thorax
Tomography, X-Ray Computed
Ultrasonography
Young Adult
title Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm
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