Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
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DOI：
10.7150/ijbs.4.81
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发表时间：
2008-03-31
影响因子：
9.2
通讯作者：
Yamamoto T
中科院分区：
文献类型：
--
作者：
Anno S;Abe T;Yamamoto T
本研究旨在利用SNP基因分型技术鉴定与肤色种族差异相关的多位点单核苷酸多态性（SNP）等位基因。对美国俄亥俄州托莱多市122名白种人和日本100名蒙古人种的7个候选基因进行了20个snp分型，分别编码Agouti信号蛋白（ASIP）、酪氨酸酶相关蛋白1 （TYRP1）、酪氨酸酶（TYR）、黑素皮质素1受体（MC1R）、皮肤白化病II （OCA2）、小眼相关转录因子（MITF）和肌球蛋白VA （MYO5A）。利用链接不平衡（LD）分析了20个SNP等位基因之间的关联。SNP等位基因组合在LD下联合检验与种族群体的相关性，并进行χ2独立性检验。结果表明，多位点SNP等位基因可被认为是导致两种人群之间存在显著差异的单倍型，并提示LD的高概率。对这些发现的证实需要进一步与其他族群进行研究，分析多位点SNP等位基因与种族间肤色差异之间的关系。
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.