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DOI	10.1111/bjd.20436
	A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans
	Chen, Y.; Andre, M.; Adhikari, K.; Blin, M.; Bonfante, B.; Mendoza-Revilla, J.; Fuentes-Guajardo, M.; Palmal, S.; Chacon-Duque, J. C.; Hurtado, M.; Villegas, V.; Granja, V.; Jaramillo, C.; Arias, W.; Lozano, R. B.; Everardo-Martinez, P.; Gomez-Valdes, J.; Villamil-Ramirez, H.; de Cerqueira, C. C. S.; Hunemeier, T.; Ramallo, V.; Gonzalez-Jose, R.; Schuler-Faccini, L.; Bortolini, M. -C.; Acuna-Alonzo, V.; Canizales-Quinteros, S.; Gallo, C.; Poletti, G.; Bedoya, G.; Rothhammer, F.; Balding, D.; Tobin, D. J.; Wang, S.; Faux, P.; Ruiz-Linares, A.
通讯作者	Ruiz-Linares, A (corresponding author), Fudan Univ, Minist Educ Key Lab Contemporary Anthropol & Coll, Ctr Genet & Dev, Sch Life Sci, Shanghai, Peoples R China. ; Ruiz-Linares, A (corresponding author), Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China.
来源期刊	BRITISH JOURNAL OF DERMATOLOGY
ISSN	0007-0963
EISSN	1365-2133
出版年	2021
英文摘要	Background Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. Objectives To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and African ancestry, recruited in Latin America. Methods Skin ageing and mole count scores were obtained from facial photographs of over 6000 individuals. After quality control checks, three wrinkling traits and mole count were retained for genetic analyses. DNA samples were genotyped with Illumina's HumanOmniExpress chip. Association testing was performed on around 8 703 729 single-nucleotide polymorphisms (SNPs) across the autosomal genome. Results Genome-wide significant association was observed at four genome regions: two were associated with wrinkling (in 1p13 center dot 3 and 21q21 center dot 2), one with mole count (in 1q32 center dot 3) and one with both wrinkling and mole count (in 5p13 center dot 2). Associated SNPs in 5p13 center dot 2 and in 1p13 center dot 3 are intronic within SLC45A2 and VAV3, respectively, while SNPs in 1q32 center dot 3 are near the SLC30A1 gene, and those in 21q21 center dot 2 occur in a gene desert. Analyses of SNPs in IRF4 and MC1R are consistent with a role of these genes in skin ageing. Conclusions We replicate the association of wrinkling with variants in SLC45A2, IRF4 and MC1R reported in Europeans. We identify VAV3 and SLC30A1 as two novel candidate genes impacting on wrinkling and mole count, respectively. We provide the first evidence that SLC45A2 influences mole count, in addition to variants in this gene affecting melanoma risk in Europeans.
类型	Article ; Early Access
语种	英语
收录类别	SCI-E
WOS记录号	WOS:000669556300001
WOS关键词	CUTANEOUS MELANOMA ; RISK-FACTORS ; PIGMENTATION ; HAIR ; DETERMINANTS ; HERITABILITY ; METAANALYSIS ; POPULATION ; NEVI ; EYE
WOS类目	Dermatology
WOS研究方向	Dermatology
来源机构	University of London
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/352092
作者单位	[Chen, Y.; Ruiz-Linares, A.] Fudan Univ, Minist Educ Key Lab Contemporary Anthropol & Coll, Ctr Genet & Dev, Sch Life Sci, Shanghai, Peoples R China; [Chen, Y.; Ruiz-Linares, A.] Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China; [Andre, M.; Blin, M.; Bonfante, B.; Palmal, S.; Faux, P.; Ruiz-Linares, A.] Aix Marseille Univ, CNRS, UMR 7268, Fac Med Timone,ADES,EEF, F-13005 Marseille, France; [Andre, M.] Univ Tartu, Inst Gen, Estonian Bioctr, EE-51010 Tartu, Estonia; [Adhikari, K.; Ruiz-Linares, A.] Open Univ, Sch Math & Stat, Fac Sci Technol Engn & Math, Milton Keynes MK7 6AA, Bucks, England; [Adhikari, K.; Ruiz-Linares, A.] UCL, UCL Genet Inst, Dept Genet Evolut & Environm, London WC1E 6BT, England; [Mendoza-Revilla, J.; Hurtado, M.; Villegas, V.; Granja, V.; Gallo, C.; Poletti, G.] Univ Peruana Cayetano Heredia, Labs Investigac Desarrollo, Fac Ciencias Filosof, Lima 31, Lima, Peru; [Mendoza-Revilla, J.] Inst Pasteur, Unit Human Evolutionary Genet, F-75015 Paris, France; [Fuentes-Guajardo, M.] Uni...
推荐引用方式 GB/T 7714	Chen, Y.,Andre, M.,Adhikari, K.,et al. A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans[J]. University of London,2021.
APA	Chen, Y..,Andre, M..,Adhikari, K..,Blin, M..,Bonfante, B..,...&Ruiz-Linares, A..(2021).A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans.BRITISH JOURNAL OF DERMATOLOGY.
MLA	Chen, Y.,et al."A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans".BRITISH JOURNAL OF DERMATOLOGY (2021).