Role of common and rare variants in <i>SCN10A</i>: results from the Brugada syndrome QRS locus gene discovery collaborative study

Behr, Elijah R.; Savio‐Galimberti, Eleonora; Barc, Julien; Holst, Anders G.; Petropoulou, Evmorfia; Prins, Bram P.; Jabbari, Javad; Torchio, Margherita; Berthet, Myriam; Mizusawa, Yuka; Yang, Tao; Nannenberg, Eline A.; Dagradi, Federica; Weeke, Peter; Bastiaenan, Rachel; Ackerman, Michael J.; Haunsø, Stig; Leenhardt, Antoine; Kääb, Stefan; Probst, Vincent; Redon, Richard; Sharma, Sanjay; Wilde, Arthur A.M.; Tfelt-Hansen, Jacob; Schwartz, Peter J.; Roden, Dan M.; Bezzina, Connie R.; Olesen, Morten S.; Darbar, Dawood; Guicheney, Pascale; Crotti, Lia; Jamshidi, Yalda

doi:10.1093/cvr/cvv042

Cited by 102 publications

(107 citation statements)

References 25 publications

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“…A recent study has identified 17 SCN10A mutations in 16.7 % of 25 BrS cases and confirmed SCN10A as a major susceptibility gene for BrS [19], which was consistent with other studies [20][21][22]. Nevertheless, the association has not been studied in SUNDS cases.…”

Section: Introductionsupporting

confidence: 82%

“…Single nucleotide polymorphism rs6795970 (V1073A) is located in exon 17 with substitution c.3218T>C. Behr ER et al [22] identified that SCN10A common SNP V1073 was strongly associated with BrS and demonstrated loss of Na v 1.8 function through the gene sequence and voltage-clamp experiments in 156 Caucasian SCN5A mutation-negative BrS patients. Iio et al [41] suggested that the rs6795970 in the SCN10A gene might be associated with cardiac conduction abnormalities in hypertrophic cardiomyopathy (HCM) patients.…”

Section: Discussionmentioning

confidence: 99%

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Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population

et al. 2016

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Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative entity with unknown etiology to both forensic pathologists and physicians. The electrocardiogram (ECG) characteristics and clinical phenotype of SUNDS survivors strongly suggest that SUNDS shares some similarities with Brugada syndrome (BrS). Recently, the variants of sodium channel Na 1.8 coding gene SCN10A were identified to be associated with BrS. Here, we investigated the association of SCN10A gene variants with 105 sporadic SUNDS victims and 22 BrS cases in the Chinese Han population. A total of 6 rare mutations and 16 polymorphisms were detected in SUNDS victims. Of the six rare mutations, two were putative pathogenic mutations (F386C and R1263*), one was a likely pathogenic mutation (R14H), and the other three were predicted as benign (R817Q, T1181M, and P1683S). As for the 16 polymorphisms, 1 was a novel polymorphism (c.4144-84G>A) located in intron 24, and the rest were reported previously including one polymorphism (c.2884A>G [I962V]) which showed a statistically significant difference in allele frequency (p = 0.044) between SUNDS and the control group. There were also 5 rare mutations and 15 polymorphisms detected in BrS cases. This is the first report of common and rare variants of SCN10A gene in SUNDS and BrS in the Chinese Han population, which provides the genetic epidemiological evidence that SCN10A may be a novel susceptibility gene for SUNDS and account for approximately 3 % of SUNDS in China.

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Section: Introductionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population

et al. 2016

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“…91 Interestingly, 2 more recent studies did not reproduce the previous findings and the authors conclude that rare variants in SCN10A are not enriched in patients with BrS. 92,93 The primary role of genetic testing in the BrS is in confirmation of the disorder in the index patient and cascade testing in relatives to distinguish those who need clinical follow-up (for the development of conduction disease or for syncopal episodes) and preventive measures (eg, avoiding specific drugs, prompt management of fever) from those who are both clinically and genetically unaffected. 8,14 One study suggested that patients carrying an SCN5A mutation that leads to a prematurely truncated protein (stop codon or frameshift) were more likely to present with syncope and develop prolonged PR and QRS intervals in comparison with patients harboring missense mutations.…”

Section: Brugada Syndromementioning

confidence: 88%

Genetics of Sudden Cardiac Death

Bezzina

Lahrouchi

Priori

2015

Circulation Research

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223

165

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Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies conducted during the past 20 years have markedly illuminated the genetic basis of the inherited cardiac disorders associated with sudden cardiac death. Here, we review the genetic basis of sudden cardiac death with a focus on the current knowledge on the genetics of the primary electric disorders caused primarily by mutations in genes encoding ion channels, and the cardiomyopathies, which have been attributed to mutations in genes encoding a broader category of proteins, including those of the sarcomere, the cytoskeleton, and desmosomes. We discuss the challenges currently faced in unraveling genetic factors that predispose to sudden cardiac death in the setting of sequela of coronary artery disease and present the genome-wide association studies conducted in recent years on electrocardiographic parameters, highlighting their potential in uncovering new biological insights into cardiac electric function. (Circ Res.

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“…Гомозиготный генотип GG гена SCN10A играет протективную роль в отношении развития идиопатических атриовентрикулярных блокад и блокады правой ножки пучка Гиса. [3][4][5][6][7][8]. Однако имеющиеся результаты по гену SCN10A были получены при исследовании пациентов евро-пейской, азиатской и афроамериканской популяций, среди лиц сибирской популяции данный ген ранее не изучался.…”

Section: новый генетический маркер врожденной патологии проводящей сиunclassified

A Novel Genetic Marker for Inherited Disorder of the Heart Conduction System

Никулина¹,

Чернова²,

Tretyakova³

2015

Ross. kardiol. ž.

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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

Cited by 102 publications

References 25 publications

Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population

Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population

Genetics of Sudden Cardiac Death

A Novel Genetic Marker for Inherited Disorder of the Heart Conduction System

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