A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot

Judith A. Goodship; Darroch Hall; Ana Topf; Chrysovalanto Mamasoula; Helen Griffin; Thahira J. Rahman; Elise Glen; Huay Tan; Julian Palomino Doza; Caroline L. Relton; Jamie Bentham; Shoumo Bhattacharya; Catherine Cosgrove; David Brook; Javier Granados-Riveron; Frances A. Bu'Lock; John O'Sullivan; A. Graham Stuart; Jonathan Parsons; Heather J. Cordell; Bernard Keavney

doi:10.1161/CIRCGENETICS.111.962035

A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot

Judith A. Goodship, Darroch Hall, Ana Topf, Chrysovalanto Mamasoula, Helen Griffin, Thahira J. Rahman, Elise Glen, Huay Tan, Julian Palomino Doza, Caroline L. Relton, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, David Brook, Javier Granados-Riveron, Frances A. Bu'Lock, John O'Sullivan, A. Graham Stuart, Jonathan Parsons, Heather J. CordellBernard Keavney

Research output: Contribution to journal › Article › peer-review

Abstract

Background- Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. Methods and Results- Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P

Original language	English
Pages (from-to)	287-292
Number of pages	5
Journal	Circulation: Cardiovascular Genetics
Volume	5
Issue number	3
DOIs	https://doi.org/10.1161/CIRCGENETICS.111.962035
Publication status	Published - Jun 2012

Keywords

Association studies
Congenital
Genetics
PTPN11
Tetralogy of Fallot

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1161/CIRCGENETICS.111.962035

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Goodship, J. A., Hall, D., Topf, A., Mamasoula, C., Griffin, H., Rahman, T. J., Glen, E., Tan, H., Doza, J. P., Relton, C. L., Bentham, J., Bhattacharya, S., Cosgrove, C., Brook, D., Granados-Riveron, J., Bu'Lock, F. A., O'Sullivan, J., Stuart, A. G., Parsons, J., ... Keavney, B. (2012). A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot. Circulation: Cardiovascular Genetics, 5(3), 287-292. https://doi.org/10.1161/CIRCGENETICS.111.962035

@article{2316bd33fd0540b88086c08585832148,

title = "A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot",

abstract = "Background- Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. Methods and Results- Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P",

keywords = "Association studies, Congenital, Genetics, PTPN11, Tetralogy of Fallot",

author = "Goodship, {Judith A.} and Darroch Hall and Ana Topf and Chrysovalanto Mamasoula and Helen Griffin and Rahman, {Thahira J.} and Elise Glen and Huay Tan and Doza, {Julian Palomino} and Relton, {Caroline L.} and Jamie Bentham and Shoumo Bhattacharya and Catherine Cosgrove and David Brook and Javier Granados-Riveron and Bu'Lock, {Frances A.} and John O'Sullivan and Stuart, {A. Graham} and Jonathan Parsons and Cordell, {Heather J.} and Bernard Keavney",

note = "085475, Wellcome Trust, United Kingdom, British Heart Foundation, United Kingdom",

year = "2012",

month = jun,

doi = "10.1161/CIRCGENETICS.111.962035",

language = "English",

volume = "5",

pages = "287--292",

journal = "Circulation: Cardiovascular Genetics",

issn = "1942-3268",

publisher = "Lippincott Williams & Wilkins",

number = "3",

}

Goodship, JA, Hall, D, Topf, A, Mamasoula, C, Griffin, H, Rahman, TJ, Glen, E, Tan, H, Doza, JP, Relton, CL, Bentham, J, Bhattacharya, S, Cosgrove, C, Brook, D, Granados-Riveron, J, Bu'Lock, FA, O'Sullivan, J, Stuart, AG, Parsons, J, Cordell, HJ & Keavney, B 2012, 'A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot', Circulation: Cardiovascular Genetics, vol. 5, no. 3, pp. 287-292. https://doi.org/10.1161/CIRCGENETICS.111.962035

TY - JOUR

T1 - A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot

AU - Goodship, Judith A.

AU - Hall, Darroch

AU - Topf, Ana

AU - Mamasoula, Chrysovalanto

AU - Griffin, Helen

AU - Rahman, Thahira J.

AU - Glen, Elise

AU - Tan, Huay

AU - Doza, Julian Palomino

AU - Relton, Caroline L.

AU - Bentham, Jamie

AU - Bhattacharya, Shoumo

AU - Cosgrove, Catherine

AU - Brook, David

AU - Granados-Riveron, Javier

AU - Bu'Lock, Frances A.

AU - O'Sullivan, John

AU - Stuart, A. Graham

AU - Parsons, Jonathan

AU - Cordell, Heather J.

AU - Keavney, Bernard

N1 - 085475, Wellcome Trust, United Kingdom, British Heart Foundation, United Kingdom

PY - 2012/6

Y1 - 2012/6

N2 - Background- Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. Methods and Results- Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P

AB - Background- Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. Methods and Results- Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P

KW - Association studies

KW - Congenital

KW - Genetics

KW - PTPN11

KW - Tetralogy of Fallot

U2 - 10.1161/CIRCGENETICS.111.962035

DO - 10.1161/CIRCGENETICS.111.962035

M3 - Article

C2 - 22503907

SN - 1942-3268

VL - 5

SP - 287

EP - 292

JO - Circulation: Cardiovascular Genetics

JF - Circulation: Cardiovascular Genetics

IS - 3

ER -

A common variant in the PTPN11 gene contributes to the risk of tetralogy of fallot

Abstract

Keywords

UN SDGs

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