Evaluation of PAX3 genetic variants and nevus number

التفاصيل البيبلوغرافية
العنوان: Evaluation of PAX3 genetic variants and nevus number
المؤلفون: Isabel Kolm, Julia Newton-Bishop, Miquel Angel Pujana, Josep Malvehy, Cristina Carrera, Mark Harland, Andrew A. Brown, Fay Elliot, Mark M. Iles, Veronique Bataille, Nuria Bonifaci, May Chan, Zighereda Ogbah, Joan Anton Puig-Butille, Daniel Glass, Elisabet Guino, Celia Badenas, Tim Bishop, Julie Randerson-Moor, Susana Puig, Tim D. Spector
المساهمون: University of Zurich, Ogbah, Zighereda
المصدر: Pigment Cell & Melanoma Research; Vol 26
بيانات النشر: WILEY-BLACKWELL, 2013.
سنة النشر: 2013
مصطلحات موضوعية: Adult, Male, Candidate gene, Skin Neoplasms, Adolescent, PAX3, Single-nucleotide polymorphism, 610 Medicine & health, Dermatology, Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, 2708 Dermatology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 1300 General Biochemistry, Genetics and Molecular Biology, medicine, SNP, Nevus, Humans, Paired Box Transcription Factors, Genetic Predisposition to Disease, skin and connective tissue diseases, PAX3 Transcription Factor, Genetic Association Studies, 030304 developmental biology, Aged, Genetics, Aged, 80 and over, 0303 health sciences, Melanoma, Melanoma inhibitory activity, Case-control study, 10177 Dermatology Clinic, Middle Aged, medicine.disease, United Kingdom, 3. Good health, Oncology, Spain, 030220 oncology & carcinogenesis, Case-Control Studies, Female, 2730 Oncology
الوصف: Summary 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
وصف الملف: Ogbah_Z_et_al_-_Pigment_cell_of_Melanoma_2013.pdf - application/pdf
اللغة: English
تدمد: 1755-1471
DOI: 10.1111/pcmr.12130
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa13be24283fe23f48aa99e6f7f7b5e6Test
حقوق: RESTRICTED
رقم الانضمام: edsair.doi.dedup.....fa13be24283fe23f48aa99e6f7f7b5e6
قاعدة البيانات: OpenAIRE
الوصف
تدمد:17551471
DOI:10.1111/pcmr.12130