Characteristic MC1R polymorphism in the Japanese population

Motokawa, Tomonori; Kato, Tomomi; Hashimoto, Yuki; Hongo, Maya; Ito, Masaaki; Takimoto, Hidetaka; Katagiri, Takayuki

doi:10.1016/j.jdermsci.2005.10.006

Cited by 16 publications

(22 citation statements)

References 8 publications

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“…These variants have been found in red‐haired Caucasian individuals. However, in Japanese individuals, the common variants MC1R , R67Q, V92M, I120T and R163Q differ from those found in Caucasian individuals . A report suggested that the V92M and R163Q variants were associated with freckling and severe solar lentigines in Japanese individuals, but we were not able to find reports suggesting that the MC1R variants were associated with the risk of cutaneous cancer in Japanese populations.…”

Section: Introductioncontrasting

confidence: 86%

Variants in melanogenesis‐related genes associate with skin cancer risk among Japanese populations

Yoshizawa

Abe

Oiso

et al. 2014

The Journal of Dermatology

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Human skin color is known to be associated with the risk of cutaneous cancer. Some reports indicated that pigmentation-related gene variants were associated with cutaneous cancer risk in Caucasian populations, but there are no similar reports in East Asian populations. This study aimed to evaluate the association between pigmentation-related genes and the risk of skin cancer in Japanese populations. We studied the associations between 12 variants of four pigmentation-related genes and melanin index variations in 198 Japanese patients with skin cancer and compared these findings to those of 500 Japanese controls by using multiple logistic regression analysis. Furthermore, we analyzed an independent sample of 107 Japanese patients with skin cancer. A non-synonymous variant, H615R in the oculocutaneous albinism 2 gene (OCA2), was associated with the risk of malignant melanoma in the Yamagata group (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.17-0.86; P = 0.020). Another non-synonymous variant, A481T in OCA2, was associated with the risk of squamous cell carcinoma and actinic keratosis in the Osaka group (OR, 3.16; 95% CI, 1.41-7.04; P = 0.005). In malignant melanoma cases, the minor allele in OCA2 H615R might have induced the development of lesions in sun-exposed skin (OR, 26.32; 95% CI, 1.96-333; P = 0.014). Our results suggest that some OCA2 variants are definite risk factors for the onset of cutaneous cancer in Japanese populations.

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Section: Introductioncontrasting

confidence: 86%

Variants in melanogenesis‐related genes associate with skin cancer risk among Japanese populations

Yoshizawa

Abe

Oiso

et al. 2014

The Journal of Dermatology

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“…The red hair color phenotype and fair skin of Caucasians are caused by non‐functional variants of an amino acid substitution in the MC1R gene. The possibility of the presence of the homozygous variant Thr120 in the Japanese population is 0.000441 (one person per 2268 people) 61 . The homozygous variant Thr120 by itself could not cause auburn hair in the Japanese population, because red or auburn hair color is extremely rare 44 .…”

Section: Piebaldismmentioning

confidence: 99%

Piebaldism

Oiso

Fukai

Kawada

et al. 2012

The Journal of Dermatology

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Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss-of-function mutation in the KIT gene. Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism that are milder or severer than genetically expected indicate that other factors, such as a modifier gene of MC1R, influence skin and hair color. The KIT ligand ⁄ KIT that triggers the Ras ⁄ mitogenactivated protein kinase signaling pathway play essential functions in the migration, proliferation, survival, melanogenesis and melanosome transfer of the melanocytes. We summarize current research progress in piebaldism and related disorders.

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“…21,22 Questionnairebased evaluation such as self-reported categories (fair/pale, medium or olive/dark) and Fitzpatrick scale are still used even in genome-wide association studies focused on people of European descent. 23 However, methods that depend upon arbitrary categories for skin color or the Fitzpatrick scale may not be valid for East Asians; for example, all of the participants in the study by Motokawa et al 24 were sorted into the 'medium' category and skin types II-IV. Therefore, spectrophotometers, which yield objective and consistent color measurements, are more suitable for measuring the skin reflectance of East Asians.…”

Section: Introductionmentioning

confidence: 99%

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese

et al. 2012

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Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were obtained from a total of 653 Japanese individuals (ages 19-40 years) residing in Okinawa; skin reflectance was measured using a spectrophotometer and freckling status was determined for each individual. Lightness index (L*) and freckling status were not correlated with age, body mass index or ancestry (Ryukyuan or Main Islanders of Japan). Among the 10 nonsynonymous variants that were identified by direct sequencing of the coding region of MC1R, two variants-R163Q and V92M-with the derived allele frequencies of 78.6 and 5.5%, respectively, were most common. Multiple regression analysis showed that the 163Q allele and the presence of nonsynonymous rare variants (allele frequencies o5%) were significantly associated with an increase in sex-standardized skin lightness (L* of CIELAB (CIE 1976 (L*a*b*) color space)) of the inner upper arm. Relative to the 92V allele, the 92M allele was significantly associated with increased odds of freckling. This is the first study to show an association between the 163Q allele and skin reflectance values; this association indicated that light-toned skin may have been subjected to positive selection in East Asian people.

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Characteristic MC1R polymorphism in the Japanese population

Cited by 16 publications

References 8 publications

Variants in melanogenesis‐related genes associate with skin cancer risk among Japanese populations

Variants in melanogenesis‐related genes associate with skin cancer risk among Japanese populations

Piebaldism

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese

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