Melanocortin-1 receptor gene variants in four Chinese ethnic populations

Peng, Shouneng; Lu, XM; Luo, Hui; Jg, Xiang-Yu; Yp, Zhang

doi:10.1038/sj.cr.7290070

Cited by 28 publications

(3 citation statements)

References 18 publications

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“…The Q163 allele was observed at high frequencies in all eight Asian populations. The Japanese population in Okinawa had the highest frequency of 0.833 which was comparable to 0.85 in Ainu (Nakayama et al 2006) and Tibet (Shi et al 2001). The Q163 allele is very common in New World populations, which have an affinity with East Siberian and Northeast Asian populations (Harding et al 2000;Rana et al 1999).…”

Section: Resultsmentioning

confidence: 87%

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

et al. 2007

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Very little is known about the genes and mechanisms affecting skin lightening in Asian populations. In this study, two coding SNPs, c.G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from various areas. The Q163 and R615 alleles prevailed almost exclusively in East and Southeast Asian populations. Wright's F (ST) was 0.445 for R163Q and 0.385 for H615R among the 16 populations. The frequency of the Q163 allele was higher in Northeast Asians than in Southeast Asians. The frequency of the R615 allele was highest in South China and unlikely to be associated with levels of ultraviolet radiation. This allele may be a good marker to study the genetic affinity among East Asians because of its restricted distribution and marked difference in allele frequency.

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Section: Resultsmentioning

confidence: 87%

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

et al. 2007

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“…The polymorphic allele is very recurrent in East Asian populations, reaching frequencies of up to 73%. (Motokawa et al, 2006;SHI, LU, LUO, XIANG-YU, & ZHANG, 2001). In African populations allele G appears at very high frequencies, over 90% and allele A at very low frequencies (Deng & Xu, 2018).…”

Section: Discussionmentioning

confidence: 99%

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Souza

Bastos

Silva

et al. 2021

RSD

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The study of Externally Visible Characteristics (EVC) of pigmentation associated with SNPs (Single Nucleotide Polymorphisms) has become a target in the forensic field due to the possibility of phenotypically characterizing an individual. In Brazil, there are few data that shows the evaluation of some these markers, so further studies are necessary to understand better the pigmentation process related to genetic markers. The aim of this study was to test the association between 8 SNPs present in HIrisplex tool and EVC to provide a starting point for the development of prediction models for heterogeneous populations like the one in Pernambuco. Were evaluated 176 individuals by associations between self-reported eye, hair and skin color data and polymorphisms. Artificial intelligence tools were used for the prediction models. Significant associations were found between rs1800404 (OCA2), rs6058017 (ASIP), rs16891982 (SLC45A2) and rs1426654 (SLC24A5) with (EVC). The prediction models evaluated showed satisfactory prediction rates, rates above 60% for skin color and above 70% for eyes and hair. The associations found in our data show the importance of SNPs evaluation used in DNA Phenotyping, because of its ability to provide new information in the context of criminal investigations. Our data indicate that is possible to use molecular information to predict phenotypes in miscigenated populations, like the Brazilian population. These polymorphisms could be possible phenotypic predictors for the Pernambuco population.

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“…40 In addition to direct association with lighter skin, the polymorphism affecting the genes such as MITF, TYR (tyrosinase), TYRP1 (tyrosinaserelated protein 1), EXOC2, MYO5A, and DTNBP1 is also correlated with the levels of serum 25[OH]D, indicating a direct impact on vitamin D status and deficiency in Caucasian individuals. 17,64,67 Polymorphic genes specific to Oriental skin fall within the markers of melanin synthesis and responses to UVR exposure such as ATRN (attractin), 58 MC1R, 81,82 and DRD2 (dopamine receptor 2) 83 as well as melanocyte biogenesis and survival, including ADAM17 (ADAM metallopeptidase domain 17), ADAMTS20 (ADAM metallopeptidase with thrombospondin type 1 motif 20), 58 and melanosome trafficking, LYST (lysosomal trafficking regulator,CHS1). 66 The majority of the polymorphic genes in Oriental skin fall within the group of 68,158 Oriental Allelic diversity 68,83,158 Indian Allelic diversity 58,158 African Allelic diversity 158 Melanocyte biogenesis and survival ITCH Caucasian Lower expression levels in the lightlypigmented melanocytes 40 UQCC Caucasian Lower expression levels in the lightlypigmented melanocytes 40 PROCR Caucasian Lower expression levels in the lightlypigmented melanocytes 40 KITLG Caucasian Allelic diversity 45,83,84 Oriental Allelic diversity 83,84 EDA Caucasian Allelic diversity 47 EDA Oriental Allelic diversity 47…”

Section: Ethnic Skin Phenotypes Are Defined By the Genes Controlling mentioning

confidence: 99%

<p>Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure</p>

Markiewicz¹,

Idowu²

2020

CCID

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Human skin demonstrates a striking variation in tone and color that is evident among multiple demographic populations. Such characteristics are determined predominantly by the expression of the genes controlling the quantity and quality of melanin, which can alter significantly due to the presence of small nucleotide polymorphism affecting various steps of the melanogenesis process and generally linked to the lighter skin phenotypes. Genetically determined, constitutive skin color is additionally complemented by the facultative melanogenesis and tanning responses; with high levels of melanin and melanogenic factors broadly recognized to have a protective effect against the UVR-induced molecular damage in darker skin. Long-term sun exposure, together with a genetic makeup responsible for the ability to tan or the activity of constitutive melanogenic factors, triggers defects in pigmentation across all ethnic skin types. However, sun exposure also has well documented beneficial effects that manifest at both skin homeostasis and the systemic level, such as synthesis of vitamin D, which is thought to be less efficient in the presence of high levels of melanin or potentially linked to the polymorphism in the genes responsible for skin darkening triggered by UVR. In this review, we discuss melanogenesis in a context of constitutive pigmentation, defined by gene polymorphism in ethnic skin types, and facultative pigmentation that is not only associated with the capacity to protect the skin against photo-damage but could also have an impact on vitamin D synthesis through gene polymorphism. Modulating the activities of melanogenic genes, with the focus on the markers specifically altered by polymorphism combined with differential requirements of sun exposure in ethnic skin types, could enhance the applications of already existing skin brightening factors and provide a novel approach toward improved skin tone and health in personalized skincare.

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Melanocortin-1 receptor gene variants in four Chinese ethnic populations

Cited by 28 publications

References 18 publications

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

<p>Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure</p>

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