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Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand

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Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand. / Makarawate, Pattarapong; Glinge, Charlotte; Khongphatthanayothin, Apichai; Walsh, Roddy; Mauleekoonphairoj, John; Amnueypol, Montawatt; Prechawat, Somchai; Wongcharoen, Wanwarang; Krittayaphong, Rungroj; Anannab, Alisara; Lichtner, Peter; Meitinger, Thomas; Tjong, Fleur V Y; Lieve, Krystien V V; Amin, Ahmad S; Sahasatas, Dujdao; Ngarmukos, Tachapong; Wichadakul, Duangdao; Payungporn, Sanchai; Sutjaporn, Boosamas; Wandee, Pharawee; Poovorawan, Yong; Tfelt-Hansen, Jacob; Tanck, Michael W T; Tadros, Rafik; Wilde, Arthur A M; Bezzina, Connie R; Veerakul, Gumpanart; Nademanee, Koonlawee.

I: Heart Rhythm, Bind 17, Nr. 12, 30.12.2020, s. 2145-2153.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Makarawate, P, Glinge, C, Khongphatthanayothin, A, Walsh, R, Mauleekoonphairoj, J, Amnueypol, M, Prechawat, S, Wongcharoen, W, Krittayaphong, R, Anannab, A, Lichtner, P, Meitinger, T, Tjong, FVY, Lieve, KVV, Amin, AS, Sahasatas, D, Ngarmukos, T, Wichadakul, D, Payungporn, S, Sutjaporn, B, Wandee, P, Poovorawan, Y, Tfelt-Hansen, J, Tanck, MWT, Tadros, R, Wilde, AAM, Bezzina, CR, Veerakul, G & Nademanee, K 2020, 'Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand', Heart Rhythm, bind 17, nr. 12, s. 2145-2153. https://doi.org/10.1016/j.hrthm.2020.06.027

APA

Makarawate, P., Glinge, C., Khongphatthanayothin, A., Walsh, R., Mauleekoonphairoj, J., Amnueypol, M., Prechawat, S., Wongcharoen, W., Krittayaphong, R., Anannab, A., Lichtner, P., Meitinger, T., Tjong, F. V. Y., Lieve, K. V. V., Amin, A. S., Sahasatas, D., Ngarmukos, T., Wichadakul, D., Payungporn, S., ... Nademanee, K. (2020). Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand. Heart Rhythm, 17(12), 2145-2153. https://doi.org/10.1016/j.hrthm.2020.06.027

Vancouver

Makarawate P, Glinge C, Khongphatthanayothin A, Walsh R, Mauleekoonphairoj J, Amnueypol M o.a. Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand. Heart Rhythm. 2020 dec 30;17(12):2145-2153. https://doi.org/10.1016/j.hrthm.2020.06.027

Author

Makarawate, Pattarapong ; Glinge, Charlotte ; Khongphatthanayothin, Apichai ; Walsh, Roddy ; Mauleekoonphairoj, John ; Amnueypol, Montawatt ; Prechawat, Somchai ; Wongcharoen, Wanwarang ; Krittayaphong, Rungroj ; Anannab, Alisara ; Lichtner, Peter ; Meitinger, Thomas ; Tjong, Fleur V Y ; Lieve, Krystien V V ; Amin, Ahmad S ; Sahasatas, Dujdao ; Ngarmukos, Tachapong ; Wichadakul, Duangdao ; Payungporn, Sanchai ; Sutjaporn, Boosamas ; Wandee, Pharawee ; Poovorawan, Yong ; Tfelt-Hansen, Jacob ; Tanck, Michael W T ; Tadros, Rafik ; Wilde, Arthur A M ; Bezzina, Connie R ; Veerakul, Gumpanart ; Nademanee, Koonlawee. / Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand. I: Heart Rhythm. 2020 ; Bind 17, Nr. 12. s. 2145-2153.

Bibtex

@article{bfa66dd4eab84b139d191f4debc9d2a4,
title = "Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand",
abstract = "BACKGROUND: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variation may underlie BrS in a complex inheritance model.OBJECTIVE: To find common and rare/low frequency genetic variants predisposing to BrS in Thailand.METHODS: We conducted a genome-wide association study (GWAS) to explore the association of common variants in 154 Thai BrS cases and 432 controls. We sequenced SCN5A in 131 cases and 205 controls. Variants were classified according to current guidelines and case-control association testing was performed for rare and low frequency variants.RESULTS: Two loci were significantly associated with BrS. The first was near SCN5A/SCN10A (lead marker rs10428132; odds ratio [OR]2.4, P=3x10-10). The conditional analysis identified a novel independent signal in the same locus (rs6767797; OR2.3, P=2.7x10-10). The second locus was near HEY2 (lead marker rs3734634; OR2.5, P=7x10-9). Rare (MAF<0.0001) coding variants in SCN5A were found in 8 of the 131 cases (6.1% in cases versus 2.0% in controls, P=0.046, OR=3.3 [1.0-11.1]), but an enrichment of low frequency (MAF<0.001 and >0.0001) variants was also observed in cases, with one variant (SCN5A:p.Arg965Cys), detected in 4.6% of Thai BrS patients vs 0.5% in controls (P=0.015, OR=9.8[1.2-82.3]).CONCLUSIONS: The genetic basis of BrS in Thailand includes a wide spectrum of variant frequencies and effect sizes. As previously shown in European and Japanese populations, common variants near SCN5A and HEY2 are associated with BrS in the Thai population, confirming the trans-ethnic transferability of these two major BrS loci.",
author = "Pattarapong Makarawate and Charlotte Glinge and Apichai Khongphatthanayothin and Roddy Walsh and John Mauleekoonphairoj and Montawatt Amnueypol and Somchai Prechawat and Wanwarang Wongcharoen and Rungroj Krittayaphong and Alisara Anannab and Peter Lichtner and Thomas Meitinger and Tjong, {Fleur V Y} and Lieve, {Krystien V V} and Amin, {Ahmad S} and Dujdao Sahasatas and Tachapong Ngarmukos and Duangdao Wichadakul and Sanchai Payungporn and Boosamas Sutjaporn and Pharawee Wandee and Yong Poovorawan and Jacob Tfelt-Hansen and Tanck, {Michael W T} and Rafik Tadros and Wilde, {Arthur A M} and Bezzina, {Connie R} and Gumpanart Veerakul and Koonlawee Nademanee",
note = "Copyright {\textcopyright} 2020. Published by Elsevier Inc.",
year = "2020",
month = dec,
day = "30",
doi = "10.1016/j.hrthm.2020.06.027",
language = "English",
volume = "17",
pages = "2145--2153",
journal = "Heart Rhythm",
issn = "1547-5271",
publisher = "Elsevier",
number = "12",

}

RIS

TY - JOUR

T1 - Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand

AU - Makarawate, Pattarapong

AU - Glinge, Charlotte

AU - Khongphatthanayothin, Apichai

AU - Walsh, Roddy

AU - Mauleekoonphairoj, John

AU - Amnueypol, Montawatt

AU - Prechawat, Somchai

AU - Wongcharoen, Wanwarang

AU - Krittayaphong, Rungroj

AU - Anannab, Alisara

AU - Lichtner, Peter

AU - Meitinger, Thomas

AU - Tjong, Fleur V Y

AU - Lieve, Krystien V V

AU - Amin, Ahmad S

AU - Sahasatas, Dujdao

AU - Ngarmukos, Tachapong

AU - Wichadakul, Duangdao

AU - Payungporn, Sanchai

AU - Sutjaporn, Boosamas

AU - Wandee, Pharawee

AU - Poovorawan, Yong

AU - Tfelt-Hansen, Jacob

AU - Tanck, Michael W T

AU - Tadros, Rafik

AU - Wilde, Arthur A M

AU - Bezzina, Connie R

AU - Veerakul, Gumpanart

AU - Nademanee, Koonlawee

N1 - Copyright © 2020. Published by Elsevier Inc.

PY - 2020/12/30

Y1 - 2020/12/30

N2 - BACKGROUND: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variation may underlie BrS in a complex inheritance model.OBJECTIVE: To find common and rare/low frequency genetic variants predisposing to BrS in Thailand.METHODS: We conducted a genome-wide association study (GWAS) to explore the association of common variants in 154 Thai BrS cases and 432 controls. We sequenced SCN5A in 131 cases and 205 controls. Variants were classified according to current guidelines and case-control association testing was performed for rare and low frequency variants.RESULTS: Two loci were significantly associated with BrS. The first was near SCN5A/SCN10A (lead marker rs10428132; odds ratio [OR]2.4, P=3x10-10). The conditional analysis identified a novel independent signal in the same locus (rs6767797; OR2.3, P=2.7x10-10). The second locus was near HEY2 (lead marker rs3734634; OR2.5, P=7x10-9). Rare (MAF<0.0001) coding variants in SCN5A were found in 8 of the 131 cases (6.1% in cases versus 2.0% in controls, P=0.046, OR=3.3 [1.0-11.1]), but an enrichment of low frequency (MAF<0.001 and >0.0001) variants was also observed in cases, with one variant (SCN5A:p.Arg965Cys), detected in 4.6% of Thai BrS patients vs 0.5% in controls (P=0.015, OR=9.8[1.2-82.3]).CONCLUSIONS: The genetic basis of BrS in Thailand includes a wide spectrum of variant frequencies and effect sizes. As previously shown in European and Japanese populations, common variants near SCN5A and HEY2 are associated with BrS in the Thai population, confirming the trans-ethnic transferability of these two major BrS loci.

AB - BACKGROUND: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variation may underlie BrS in a complex inheritance model.OBJECTIVE: To find common and rare/low frequency genetic variants predisposing to BrS in Thailand.METHODS: We conducted a genome-wide association study (GWAS) to explore the association of common variants in 154 Thai BrS cases and 432 controls. We sequenced SCN5A in 131 cases and 205 controls. Variants were classified according to current guidelines and case-control association testing was performed for rare and low frequency variants.RESULTS: Two loci were significantly associated with BrS. The first was near SCN5A/SCN10A (lead marker rs10428132; odds ratio [OR]2.4, P=3x10-10). The conditional analysis identified a novel independent signal in the same locus (rs6767797; OR2.3, P=2.7x10-10). The second locus was near HEY2 (lead marker rs3734634; OR2.5, P=7x10-9). Rare (MAF<0.0001) coding variants in SCN5A were found in 8 of the 131 cases (6.1% in cases versus 2.0% in controls, P=0.046, OR=3.3 [1.0-11.1]), but an enrichment of low frequency (MAF<0.001 and >0.0001) variants was also observed in cases, with one variant (SCN5A:p.Arg965Cys), detected in 4.6% of Thai BrS patients vs 0.5% in controls (P=0.015, OR=9.8[1.2-82.3]).CONCLUSIONS: The genetic basis of BrS in Thailand includes a wide spectrum of variant frequencies and effect sizes. As previously shown in European and Japanese populations, common variants near SCN5A and HEY2 are associated with BrS in the Thai population, confirming the trans-ethnic transferability of these two major BrS loci.

U2 - 10.1016/j.hrthm.2020.06.027

DO - 10.1016/j.hrthm.2020.06.027

M3 - Journal article

C2 - 32619740

VL - 17

SP - 2145

EP - 2153

JO - Heart Rhythm

JF - Heart Rhythm

SN - 1547-5271

IS - 12

ER -

ID: 244528158