Evaluation of PAX3 genetic variants and nevus number

Zighereda Ogbah; Celia Badenas; Mark Harland; Joan A. Puig-Butille; Fay Elliot; Nuria Bonifaci; Elisabet Guino; Julie Randerson-Moor; May Chan; Mark M. Iles; Daniel Glass; Andrew A. Brown; Cristina Carrera; Isabel Kolm; Veronique Bataille; Timothy D. Spector; Josep Malvehy; Julia Newton-Bishop; Miquel A. Pujana; Tim Bishop; Susana Puig

doi:10.1111/pcmr.12130

Evaluation of PAX3 genetic variants and nevus number

Zighereda Ogbah (Lead / Corresponding author), Celia Badenas, Mark Harland, Joan A. Puig-Butille, Fay Elliot, Nuria Bonifaci, Elisabet Guino, Julie Randerson-Moor, May Chan, Mark M. Iles, Daniel Glass, Andrew A. Brown, Cristina Carrera, Isabel Kolm, Veronique Bataille, Timothy D. Spector, Josep Malvehy, Julia Newton-Bishop, Miquel A. Pujana, Tim BishopSusana Puig

Population Health and Genomics

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

8 Citations (Scopus)

Abstract

The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three-stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single-nucleotide polymorphisms (SNPs) in 39 candidate genes. Seven SNPs in the PAX3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from TwinsUK. Associations with high nevus number were detected for rs6754024 (P values < 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values < 0.01) in the Barcelona and the TwinsUK sets. Associations (P values < 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and TwinsUK sets. This study suggests that SNPs in PAX3 are associated with nevus number, providing support for PAX3 as a candidate nevus gene. Further studies are needed to examine the role of PAX3 in melanoma susceptibility.

Original language	English
Pages (from-to)	666-676
Number of pages	11
Journal	Pigment Cell and Melanoma Research
Volume	26
Issue number	5
DOIs	https://doi.org/10.1111/pcmr.12130
Publication status	Published - Sept 2013

Keywords

Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Nevus/genetics
PAX3 Transcription Factor
Paired Box Transcription Factors/genetics
Polymorphism, Single Nucleotide/genetics
Skin Neoplasms/genetics
Spain
United Kingdom
Young Adult

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10.1111/pcmr.12130

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Ogbah, Z., Badenas, C., Harland, M., Puig-Butille, J. A., Elliot, F., Bonifaci, N., Guino, E., Randerson-Moor, J., Chan, M., Iles, M. M., Glass, D., Brown, A. A., Carrera, C., Kolm, I., Bataille, V., Spector, T. D., Malvehy, J., Newton-Bishop, J., Pujana, M. A., ... Puig, S. (2013). Evaluation of PAX3 genetic variants and nevus number. Pigment Cell and Melanoma Research, 26(5), 666-676. https://doi.org/10.1111/pcmr.12130

@article{ac2a95b8b2c34924b06a986cc196152a,

title = "Evaluation of PAX3 genetic variants and nevus number",

abstract = "The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three-stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single-nucleotide polymorphisms (SNPs) in 39 candidate genes. Seven SNPs in the PAX3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from TwinsUK. Associations with high nevus number were detected for rs6754024 (P values < 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values < 0.01) in the Barcelona and the TwinsUK sets. Associations (P values < 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and TwinsUK sets. This study suggests that SNPs in PAX3 are associated with nevus number, providing support for PAX3 as a candidate nevus gene. Further studies are needed to examine the role of PAX3 in melanoma susceptibility. ",

keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Nevus/genetics, PAX3 Transcription Factor, Paired Box Transcription Factors/genetics, Polymorphism, Single Nucleotide/genetics, Skin Neoplasms/genetics, Spain, United Kingdom, Young Adult",

author = "Zighereda Ogbah and Celia Badenas and Mark Harland and Puig-Butille, {Joan A.} and Fay Elliot and Nuria Bonifaci and Elisabet Guino and Julie Randerson-Moor and May Chan and Iles, {Mark M.} and Daniel Glass and Brown, {Andrew A.} and Cristina Carrera and Isabel Kolm and Veronique Bataille and Spector, {Timothy D.} and Josep Malvehy and Julia Newton-Bishop and Pujana, {Miquel A.} and Tim Bishop and Susana Puig",

note = "{\textcopyright} 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2013",

month = sep,

doi = "10.1111/pcmr.12130",

language = "English",

volume = "26",

pages = "666--676",

journal = "Pigment Cell and Melanoma Research",

issn = "1755-1471",

publisher = "Wiley",

number = "5",

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Ogbah, Z, Badenas, C, Harland, M, Puig-Butille, JA, Elliot, F, Bonifaci, N, Guino, E, Randerson-Moor, J, Chan, M, Iles, MM, Glass, D, Brown, AA, Carrera, C, Kolm, I, Bataille, V, Spector, TD, Malvehy, J, Newton-Bishop, J, Pujana, MA, Bishop, T & Puig, S 2013, 'Evaluation of PAX3 genetic variants and nevus number', Pigment Cell and Melanoma Research, vol. 26, no. 5, pp. 666-676. https://doi.org/10.1111/pcmr.12130

TY - JOUR

T1 - Evaluation of PAX3 genetic variants and nevus number

AU - Ogbah, Zighereda

AU - Badenas, Celia

AU - Harland, Mark

AU - Puig-Butille, Joan A.

AU - Elliot, Fay

AU - Bonifaci, Nuria

AU - Guino, Elisabet

AU - Randerson-Moor, Julie

AU - Chan, May

AU - Iles, Mark M.

AU - Glass, Daniel

AU - Brown, Andrew A.

AU - Carrera, Cristina

AU - Kolm, Isabel

AU - Bataille, Veronique

AU - Spector, Timothy D.

AU - Malvehy, Josep

AU - Newton-Bishop, Julia

AU - Pujana, Miquel A.

AU - Bishop, Tim

AU - Puig, Susana

PY - 2013/9

Y1 - 2013/9

N2 - The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three-stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single-nucleotide polymorphisms (SNPs) in 39 candidate genes. Seven SNPs in the PAX3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from TwinsUK. Associations with high nevus number were detected for rs6754024 (P values < 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values < 0.01) in the Barcelona and the TwinsUK sets. Associations (P values < 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and TwinsUK sets. This study suggests that SNPs in PAX3 are associated with nevus number, providing support for PAX3 as a candidate nevus gene. Further studies are needed to examine the role of PAX3 in melanoma susceptibility.

AB - The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three-stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single-nucleotide polymorphisms (SNPs) in 39 candidate genes. Seven SNPs in the PAX3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from TwinsUK. Associations with high nevus number were detected for rs6754024 (P values < 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values < 0.01) in the Barcelona and the TwinsUK sets. Associations (P values < 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and TwinsUK sets. This study suggests that SNPs in PAX3 are associated with nevus number, providing support for PAX3 as a candidate nevus gene. Further studies are needed to examine the role of PAX3 in melanoma susceptibility.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Case-Control Studies

KW - Female

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Middle Aged

KW - Nevus/genetics

KW - PAX3 Transcription Factor

KW - Paired Box Transcription Factors/genetics

KW - Polymorphism, Single Nucleotide/genetics

KW - Skin Neoplasms/genetics

KW - Spain

KW - United Kingdom

KW - Young Adult

U2 - 10.1111/pcmr.12130

DO - 10.1111/pcmr.12130

M3 - Article

C2 - 23751107

SN - 1755-1471

VL - 26

SP - 666

EP - 676

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

IS - 5

ER -

Evaluation of PAX3 genetic variants and nevus number

Abstract

Keywords

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