LRP6 Polymorphisms Is Associated With Sudden Cardiac Death in Patients With Chronic Heart Failure in the Chinese Han Population

Guo, Qi; Lai, Yiwei; Chu, Jianmin; Chen, Xuhua; Gao, Mingyang; Sang, Caihua; Dong, Jianzeng; Pu, Jielin; Ma, Changsheng

doi:10.3389/fcvm.2021.815595

Cited by 2 publications

(2 citation statements)

References 48 publications

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“…Patient #4 had a mutation in the LRP6 gene, a suspected pathogenic variant. Currently, the known clinical phenotype due to this mutation is coronary artery disease type 2 [ 32 ], which is characterized by reduced or absent blood flow in one or more coronary arteries and is consistent with the MSCTA phenotype in this pediatric patient. This patient had more serious clinical manifestations of cardiac insufficiency, and echocardiography showed severe impairment of cardiac structure and function.…”

Section: Discussionmentioning

confidence: 86%

Anomalous right coronary artery originating from the aorta: a series of nine pediatric cases

Na,

Chen,

Zhen

et al. 2023

BMC Pediatr

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Background To investigate the clinical manifestations, prognosis, and possibly related genes of anomalous right coronary artery originating from the aorta (ARCA-L) in children. Methods This case series study included pediatric patients diagnosed with ARCA-L at the Department of Cardiology in Beijing Children’s Hospital affiliated to Capital Medical University, between January 2017 and December 2019. Results Nine pediatric patients (aged 3 months to 12 years, 4 boys) were included. Two cases presented with cardiac insufficiency as their primary manifestation, while the remaining seven had post-infection or post-exercise symptoms such as chest pain, chest tightness, long exhalation, lack of strength, and dizziness. Six patients displayed varying degrees of ST-T changes on the electrocardiograph, while two patients had a reduced left ventricular ejection fraction (LVEF) of 20-32% according to echocardiography. Multislice computed tomographic angiography confirmed the presence of ARCA-L in all patients. One patient underwent the unroofing technique. The remaining eight received conservative treatment. After a follow-up of 2–64 months, eight children had a good prognosis and survived. One child experienced sudden death due to aggravated heart failure. Whole exome sequencing revealed that one child tested negative, one had mutations in the RYR2 and LDB3 genes, and the remaining four patients had a mutation in the GDF1, LRP6, MEF2A, and KALRN genes, respectively. Conclusions ARCA-L in children might have a wide variation in clinical manifestations and a risk of sudden death. The occurrence of the disease might be associated with genetic defects.

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Section: Discussionmentioning

confidence: 86%

Anomalous right coronary artery originating from the aorta: a series of nine pediatric cases

Na,

Chen,

Zhen

et al. 2023

BMC Pediatr

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“…These results implied that WIF-1 , DKK-1 genes variation might be involved in the pathogenesis of PTB, which needed to be verified with multi-ethnic population, large sample size study. As two key genes in WNT signaling pathway, previous studies had demonstrated the genetic association between LRP5 , LRP6 and disease susceptibility ( 26 , 27 ). Our study was the first to analyze the roles of LRP5 rs3736228, rs556442, LRP6 rs2302685, rs11054697 and rs10743980 polymorphisms in PTB, and no significant association was observed.…”

Section: Discussionmentioning

confidence: 99%

Clinical relevance of genetic polymorphisms in WNT signaling pathway (SFRP1, WNT3A, CTNNB1, WIF-1, DKK-1, LRP5, LRP6) on pulmonary tuberculosis in a Chinese population

et al. 2022

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The present study was performed to evaluate the association of WNT signaling pathway genes variants with pulmonary tuberculosis (PTB) risk in Chinese Han population. Our study subjects were composed of 452 PTB patients and 465 normal controls, and seventeen SNPs of seven genes in WNT signaling pathway (SFRP1, WNT3A, CTNNB1, WIF-1, DKK-1, LRP5, LRP6) were genotyped by SNPscan technique. We found no significant relationship of SFRP1 rs10088390, rs4736958, rs3242, WNT3A rs752107, rs3121310, CTNNB1 rs2293303, rs1798802, rs4135385, WIF-1 rs1026024, rs3782499, DKK-1 rs2241529, rs1569198, LRP5 rs3736228, rs556442, LRP6 rs2302685, rs11054697, rs10743980 polymorphisms with PTB susceptibility. While, WIF-1 rs3782499 variant was associated with susceptibility to PTB under recessive model, and haplotype analysis showed that DKK-1 GA haplotype frequency was significantly increased in PTB patients. The WNT3A rs3121310, CTNNB1 rs2293303 polymorphisms were respectively associated with drug-induced liver injury (DILI), sputum smear-positive in PTB patients. The rs3782499 in WIF-1 gene was related to fever, leukopenia, and the rs1569198 in DKK-1 was linked to sputum smear-positive in PTB patients. In LRP5 gene, rs3736228, rs556442 variants respectively affected the occurrence of DILI, fever, and LRP6 gene rs2302685, rs10743980 variants respectively influenced the development of hypoproteinemia, sputum smear-positive in PTB patients. Our results revealed that WNT signaling pathway genes variation were not associated with the susceptibility to PTB, while WNT3A, CTNNB1, WIF-1, DKK-1, LRP5, LRP6 genetic variations might be closely related to the occurrence of several clinical characteristics of PTB patients.

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LRP6 Polymorphisms Is Associated With Sudden Cardiac Death in Patients With Chronic Heart Failure in the Chinese Han Population

Cited by 2 publications

References 48 publications

Anomalous right coronary artery originating from the aorta: a series of nine pediatric cases

Anomalous right coronary artery originating from the aorta: a series of nine pediatric cases

Clinical relevance of genetic polymorphisms in WNT signaling pathway (SFRP1, WNT3A, CTNNB1, WIF-1, DKK-1, LRP5, LRP6) on pulmonary tuberculosis in a Chinese population

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