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中国汉族人群MC1R基因多态与皮肤颜色等表型特征关联研究

顾海英 郑红霞 路阳阳 胡海群 李玥玥 张丽 贺亚男 吴奇涵

顾海英, 郑红霞, 路阳阳, 胡海群, 李玥玥, 张丽, 贺亚男, 吴奇涵. 中国汉族人群MC1R基因多态与皮肤颜色等表型特征关联研究[J]. 华东师范大学学报(自然科学版), 2013, (2): 103-110.
引用本文: 顾海英, 郑红霞, 路阳阳, 胡海群, 李玥玥, 张丽, 贺亚男, 吴奇涵. 中国汉族人群MC1R基因多态与皮肤颜色等表型特征关联研究[J]. 华东师范大学学报(自然科学版), 2013, (2): 103-110.
GU Hai-ying, ZHENG Hong-xia, LU Yang-yang, HU Hai-qun, LI Yue-yue, ZHANG Li, HE Ya-nan, WU Qi-han. Association study of MC1R coding region polymorphisms and pigment phenotype in Chinese Han population[J]. Journal of East China Normal University (Natural Sciences), 2013, (2): 103-110.
Citation: GU Hai-ying, ZHENG Hong-xia, LU Yang-yang, HU Hai-qun, LI Yue-yue, ZHANG Li, HE Ya-nan, WU Qi-han. Association study of MC1R coding region polymorphisms and pigment phenotype in Chinese Han population[J]. Journal of East China Normal University (Natural Sciences), 2013, (2): 103-110.

中国汉族人群MC1R基因多态与皮肤颜色等表型特征关联研究

详细信息
  • 中图分类号: Q348

Association study of MC1R coding region polymorphisms and pigment phenotype in Chinese Han population

  • 摘要: 皮肤癌是一种比较常见的肿瘤,在西方人群中研究表明,通过影响皮肤颜色等色素表型特征,黑色素生成通路中相关基因多态性(〖STBX〗MC1R〖STB3〗等)可增加皮肤癌发生风险.本研究首次在中国汉族人群中选择〖STBX〗MC1R〖STB3〗基因编码区的多态位点为研究对象,分析其与中国汉族人群的皮肤颜色、对阳光的敏感性、雀斑情况及头发颜色的关联性.在〖STBX〗MC1R〖STB3〗基因编码区发现7个SNP位点:c.200GA,c.274GA,c.359TC,c.421GA,c.488GA,c.497CG和c.942AG.其中c.421GA 为新发现的SNP位点,c.497CG则首次在中国汉族人群中报道.c.942AG与皮肤颜色相关,其突变纯合基因型GG与皮肤颜色浅显著相关 (P=0.044, OR=0.16,95% CI:0.03~0.95).c.359TC杂合基因型TC与雀斑数目多显著相关(P=0.040, OR=5.76,95% CI:1.05~31.53),表明〖STBX〗MC1R〖STB3〗基因多态与中国汉族人群的皮肤颜色等色素表型特征具有一定相关性,为相关临床研究提供了参考.
  • [1] [1] DIEPGEN T L, MAHLER V. The epidemiology of skin cancer[J].British Journal of Dermatology, 2002, 61: 1-6.

    [2] DESSINIOTI C, TZANNIS K, SYPSA V, et al. Epidemiologic risk factors of basal cell carcinoma development and age of onset in a Souther European population from Greece[J]. Experimental Dermatology, 2011, 20(8): 622-626.

    [3] STURM R A. A golden age of human pigmentation genetics[J].Trends in Genetics, 2006, 22(9): 464-468.

    [4] GERSTENBLITH M R, SHI J, LANDI M T. Gernome-wild association studies of pigmentation and skin cancer:A review and meta-analysis[J]. Pigment Cell & Melanoma Research, 2010, 23(5): 587-606.

    [5] STRUM R A. Skin colour and skin cancer-MC1R, the genetic link[J].Melanoma Research, 2002, 12(5): 405-416.

    [6] DESSINIOTI C, STRATIGOS A J, RIGOPOULOS D, et al. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes[J]. Experimental Dermatology, 2009, 18(9): 741-749.

    [7] DESSINIOTI C, ANTONIOU C, KATSAMBAS A, et al. Melanocortin 1 receptor variants: functional role and pigmentary associations[J]. Photochemistry and Photobiology, 2011, 87(5): 978-987.

    [8] YAO Y G, L X M, LUO H R, et al.Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism[J]. Genes & Genetic System, 2000, 75(4): 173-178.

    [9] PENG S, L X M, LUO H R,et al.Melanocortin-1 receptor gene variants in four Chinese ethnic populations. [J]. Cell Research, 2001, 11(1): 81-84.

    [10] 郑红霞. 〖STBX〗MC1R〖STB3〗基因多态与皮肤颜色等表型特征在中国汉族人群中的关联研究[D].上海: 华东师范大学, 2010.

    [11] FITZPATRICK. The Fitzpatrick Skin-Type Chart[DB/OL]. [2012-02-01]http://www.hollywoodtansatlanta.com/The_Fitzpatrick_Skin.pdf .ASTNER S, ANDERSON R R. Skin phototypes 2003[J]. Jourmal of Investigative Dermatology, 2004.

    [12] ASTNER S, ANDERSON R R. Skin phototypes 2003[J]. Jourmal of Investigative Dermatology, 2004, 122(2):xxx-xxxi

    [13] 刘海军, 秦雪娇, 张林娜, 等. 由漱口液提取人基因组DNA量与质的分析[J].中国老年学杂志, 2009, 29(6): 678-679.

    [14] RANA B K, HEWETT-EMMETT D, JIN L, et al. High polymorphism at the human melanocortin 1 receptor locus[J]. Genetics, 1999, 151(4): 1547-1557.

    [15] VALVERDE P, HEALY E, JACKSON I, et al. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans [J].Nature Genetics, 11(3): 328-330.

    [16] BASTIAENS M, HUURNE J T, GRUIS N, et al. The melanocortin-1-receptor gene is the major freckle gene [J]. Human Molecular Genetics, 2001, 10(16): 1701-1708.

    [17] GERSTENBLITH M R, GOLDSTEIN A M, FARGNOLI M C, et al. Comprehensive evaluation of allele frequency differences of MC1R variants across populations[J].Human Mutation, 2007, 28(5): 495-505.

    [18] HACKER E, HAYWARD N K, DUMENIL T, et al.The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: Findings from an Australian Population[J]. Jourmal of Investigative Dermatology, 2010, 130(1): 241-248.

    [19] RAIMONDI S, SERA F, GANDINI S, et al. MC1R variants, melanoma and red hair color phenotype:a meta-analysis[J].International Journal of Cancer, 2008, 122(12): 2753-2760.

    [20] PREZ OLIVA A B, FERNNDEZ L P, DETORRE C, et al. Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients[J]. Human Mutation, 2009, 30(5): 811-822.

    [21] ROBINSON S, DIXON S, AUGUST S, et al. Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo[J]. Jourmal of Investigative Dermatology, 2010, 130(7): 1904-1913.

    [22] WU G S, LUO H R, DONG C, et al. Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response[J]. Psychiatric Genetics, 2011, 21(1): 14-18.

    [23] KAZUHIRO N, AUGUSTINUS S, FENG J, et al. Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians[J]. Human Genetics, 2006, 119(3): 322-330.
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出版历程
  • 收稿日期:  2012-02-01
  • 修回日期:  2012-05-01
  • 刊出日期:  2013-03-25

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