Skin pigmentation and genetic variants in an admixed Brazilian population of primarily European ancestry

被引:4
作者
Andersen, Jeppe D. [1 ]
Meyer, Olivia S. [1 ]
Simao, Filipa [2 ]
Jannuzzi, Juliana [2 ]
Carvalho, Elizeu [2 ]
Andersen, Mikkel M. [3 ]
Pereira, Vania [1 ]
Borsting, Claus [1 ]
Morling, Niels [1 ]
Gusmao, Leonor [2 ]
机构
[1] Univ Copenhagen, Fac Hlth & Med Sci, Dept Forens Med, Sect Forens Genet, DK-2100 Copenhagen, Denmark
[2] State Univ Rio de Janeiro UERJ, Inst Biol, DNA Diagnost Lab LDD, Rio De Janeiro, Brazil
[3] Aalborg Univ, Dept Math Sci, DK-9000 Aalborg, Denmark
关键词
Pigmentation; Skin colour; Admixed population; Forensic DNA phenotyping; Externally visible characteristics; Ancestry; GENOME-WIDE ASSOCIATION; EYE COLOR; PREDICTION; PANEL; HAIR; POLYMORPHISMS; PHENOTYPE; SYSTEM; BNC2; SNP;
D O I
10.1007/s00414-020-02307-y
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
Although many genes have been shown to be associated with human pigmentary traits and forensic prediction assays exist (e.g. HIrisPlex-S), the genetic knowledge about skin colour remains incomplete. The highly admixed Brazilian population is an interesting study population for investigation of the complex genotype-phenotype architecture of human skin colour because of its large variation. Here, we compared variants in 22 pigmentary genes with quantitative skin pigmentation levels on the buttock, arm, and forehead areas of 266 genetically admixed Brazilian individuals. The genetic ancestry of each individual was estimated by typing 46 AIM-InDels. The mean proportion of genetic ancestry was 68.8% European, 20.8% Sub-Saharan African, and 10.4% Native American. A high correlation (adjusted R-2 = 0.65, p < 0.05) was observed between nine SNPs and quantitative skin pigmentation using multiple linear regression analysis. The correlations were notably smaller between skin pigmentation and biogeographic ancestry (adjusted R-2 = 0.45, p < 0.05), or markers in the leading forensic skin colour prediction system, the HIrisPlex-S (adjusted R-2 = 0.54, p < 0.05). Four of the nine SNPs, OCA2 rs1448484 (rank 2), APBA2 rs4424881 (rank 4), MFSD12 rs10424065 (rank 8), and TYRP1 1408799 (rank 9) were not investigated as part of the HIrisPlex-S selection process, and therefore not included in the HIrisPlex-S model. Our results indicate that these SNPs account for a substantial part of the skin colour variation in individuals of admixed ancestry. Hence, we suggest that these SNPs are considered when developing future skin colour prediction models.
引用
收藏
页码:1569 / 1579
页数:11
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