Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects

Sumiko Anno, Takashi Abe, Takushi Yamamoto

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

This study aimed to identify single nucleotide polymorphism (SNP) alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), tyrosinase (TYR), melanocortin 1 receptor (MC1R), oculocutaneous albinism II (OCA2), microphthalmia-associated transcription factor (MITF), and myosin VA (MYO5A). Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD). Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.

Original languageEnglish
Pages (from-to)81-86
Number of pages6
JournalInternational Journal of Biological Sciences
Volume4
Issue number2
Publication statusPublished - 2008 Mar 31

Fingerprint

single nucleotide polymorphism
skin
allele
polymorphism
alleles
loci
color
linkage disequilibrium
disequilibrium
albinism
alpha-melanocyte-stimulating hormone
Agouti
protein
ethnic group
myosin
nationalities and ethnic groups
albino
genotyping
haplotypes
transcription factors

Keywords

  • Haplotype
  • Linkage disequilibrium
  • Polygene
  • SNP

ASJC Scopus subject areas

  • Cell Biology
  • Developmental Biology
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics
  • Applied Microbiology and Biotechnology

Cite this

Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects. / Anno, Sumiko; Abe, Takashi; Yamamoto, Takushi.

In: International Journal of Biological Sciences, Vol. 4, No. 2, 31.03.2008, p. 81-86.

Research output: Contribution to journalArticle

@article{3c3723fba30949039309dee61cf74067,
title = "Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects",
abstract = "This study aimed to identify single nucleotide polymorphism (SNP) alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), tyrosinase (TYR), melanocortin 1 receptor (MC1R), oculocutaneous albinism II (OCA2), microphthalmia-associated transcription factor (MITF), and myosin VA (MYO5A). Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD). Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.",
keywords = "Haplotype, Linkage disequilibrium, Polygene, SNP",
author = "Sumiko Anno and Takashi Abe and Takushi Yamamoto",
year = "2008",
month = "3",
day = "31",
language = "English",
volume = "4",
pages = "81--86",
journal = "International Journal of Biological Sciences",
issn = "1449-2288",
publisher = "Ivyspring International Publisher",
number = "2",

}

TY - JOUR

T1 - Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects

AU - Anno, Sumiko

AU - Abe, Takashi

AU - Yamamoto, Takushi

PY - 2008/3/31

Y1 - 2008/3/31

N2 - This study aimed to identify single nucleotide polymorphism (SNP) alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), tyrosinase (TYR), melanocortin 1 receptor (MC1R), oculocutaneous albinism II (OCA2), microphthalmia-associated transcription factor (MITF), and myosin VA (MYO5A). Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD). Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.

AB - This study aimed to identify single nucleotide polymorphism (SNP) alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), tyrosinase (TYR), melanocortin 1 receptor (MC1R), oculocutaneous albinism II (OCA2), microphthalmia-associated transcription factor (MITF), and myosin VA (MYO5A). Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD). Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.

KW - Haplotype

KW - Linkage disequilibrium

KW - Polygene

KW - SNP

UR - http://www.scopus.com/inward/record.url?scp=43549111377&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=43549111377&partnerID=8YFLogxK

M3 - Article

VL - 4

SP - 81

EP - 86

JO - International Journal of Biological Sciences

JF - International Journal of Biological Sciences

SN - 1449-2288

IS - 2

ER -