Analysis of SNP (single nucleotide polymorphism) multiplex markers related to sudden cardiac death in Brazilian families

Braganholi, Danilo Faustino; Cicarelli, Regina Maria Barretto

doi:10.4238/2015.november.13.20

Cited by 2 publications

(3 citation statements)

References 19 publications

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“…or established with limited number of mutations (Braganholi, D. F. et al.). Our approach is capable of detecting 45 SNPs, thus improving the detection efficiency and reducing screening costs .…”

Section: Discussionmentioning

confidence: 99%

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A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

Wang

Wang²,

et al. 2018

Electrophoresis

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Sudden cardiac death (SCD) occurs frequently in forensic practice and results in no visible pathological changes that can be detected in an autopsy. In recent years, the genetic background has been emphasized when examining SCD cases. The aim of this study is to establish a feasible system to detect SCD-related genes for forensic DNA laboratories. Forty-five reported SCD-associated SNPs from sodium voltage-gated channel alpha subunit 5 (SCN5A) were considered in our experiment. We established a SNaPshot assay for the typing of 45 SNPs using multiplex PCR and the minisequencing technique. Two multiplex PCRs were performed and optimized to cover 14 and 16 DNA fragments. The SCD victims came from the Chinese Han population residing in Shanxi and Chongqing provinces and were examined and compared with a non-SCD group and with normal healthy individuals. A missense mutation at rs1805124 (H558R) was detected in the Chinese Han population in this study. A SNaPshot assay can be performed in any forensic DNA laboratory and would be capable of meeting the increasing demand for SCD detection. This method would also be beneficial for screening at-risk in family members of SCD victims.

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Section: Discussionmentioning

confidence: 99%

“…Previous studies involving SNaPshot analysis were based on LQTS (Nastainczyk, M. et al) or established with limited number of mutations (Braganholi, D. F. et al). Our approach is capable of detecting 45 SNPs, thus improving the detection efficiency and reducing screening costs [41,42].…”

Section: Mutations and Their Significance In The Chinese Populationmentioning

confidence: 99%

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

Wang

Wang²,

et al. 2018

Electrophoresis

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“…In addition, KCNH2 rs2968864 T > C, rs4725982 C > T, and rs2072413 C > T have been reported to influence QT interval duration [ 45 , 46 ]. KCNH2 rs4725982 has also been related to sudden cardiac death [ 47 ]. KCNH2 rs1805120 G > A predisposes to acquired atrial fibrillation [ 48 ].…”

Section: Participants and Methodsmentioning

confidence: 99%

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia

Refisch

Komatsuzaki

Ungelenk

et al. 2022

Genes

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Cardiac autonomic dysfunction (CADF) is a major contributor to increased cardiac mortality in schizophrenia patients. The aberrant function of voltage-gated ion channels, which are widely distributed in the brain and heart, may link schizophrenia and CADF. In search of channel-encoding genes that are associated with both CADF and schizophrenia, CACNA1C and KCNH2 are promising candidates. In this study, we tested for associations between genetic findings in both genes and CADF parameters in schizophrenia patients whose heart functions were not influenced by psychopharmaceuticals. Methods: First, we searched the literature for single-nucleotide polymorphisms (SNPs) in CACNA1C and KCNH2 that showed genome-wide significant association with schizophrenia. Subsequently, we looked for such robust associations with CADF traits at these loci. A total of 5 CACNA1C SNPs and 9 KCNH2 SNPs were found and genotyped in 77 unmedicated schizophrenia patients and 144 healthy controls. Genotype-related impacts on heart rate (HR) dynamics and QT variability indices (QTvi) were analyzed separately in patients and healthy controls. Results: We observed significantly increased QTvi in unmedicated patients with CADF-associated risk in CACNA1C rs2283274 C and schizophrenia-associated risk in rs2239061 G compared to the non-risk allele in these patients. Moreover, unmedicated patients with previously identified schizophrenia risk alleles in KCNH2 rs11763131 A, rs3807373 A, rs3800779 C, rs748693 G, and 1036145 T showed increased mean HR and QTvi as compared to non-risk alleles. Conclusions: We propose a potential pleiotropic role for common variation in CACNA1C and KCNH2 associated with CADF in schizophrenia patients, independent of antipsychotic medication, that predisposes them to cardiac arrhythmias and premature death.

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Analysis of SNP (single nucleotide polymorphism) multiplex markers related to sudden cardiac death in Brazilian families

Cited by 2 publications

References 19 publications

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia

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