mtSNP 10398A/G与湖南汉族女性群体差异性乳腺癌风险的相关性研究
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摘要
线粒体DNA (mitochondrial DNA, mtDNA)单核苷酸多态性(single nucleotide polymorphism, SNP) 10398A/G被报道与欧洲、非洲等不同人种群女性乳腺癌发生风险存在相关性。基于该位点多态性等位基因型10398A和10398G的分布具有人种群及地域差异性,当前工作首先对它们在湖南汉族人中的分布情况进行了调查,在此基础上在病例-对照样本中考察其与本地区汉族女性该两种等位基因型群体的差异性乳腺癌风险的相关性。本研究采用自行设计的扩增难熔突变系统(amplification refractory mutation system, ARMS)方案进行该mtSNP (mtDNA single nucleotide polymorphism)10398A和G的个体等位基因分型检测。结果显示在1562名湖南地区汉族一般群体个体中mtDNA 10398A和G基因型个体分别为701人(44.9%)和861人(55.1%)；正常女性对照组中分别为219人(45.3%)和265人(54.7%),乳腺癌病例组为349人(38.7%)和552人(61.3%)。当前工作表明：(1)mtDNA 10398G基因型在病例组具有相对正常对照组显著升高的比例(61.3%vs.54.7%,P=0.019),提示在湖南地区汉族人中10398G等位基因型女性个体具有相对10398A个体较高的乳腺癌发生风险。(2)湖南汉族人中mtDNA 10398A和G两种等位基因型个体所占比例分别为-45%和-55%,与见于欧洲人(分别为-74%和-26%)、非洲人(分别为-9%和-91%)及其他地区亚洲人(如日本人分别为-29%和-71%)的情况均不同,这为亚洲及东亚人mtDNA系统的详细刻画及深入了解中国汉族人的迁徙进化历史提供了新资料,并为在该地区人群进行其他疾病风险关联性研究提供参考。(3)对个体进行mtSNP 10398A/G等位基因分型的所采用的难熔梯度递减ARMS-PCR方案不仅快速、简便,并可能建立为适用于其他mtDNA遗传多态性位点等位基因分型的普适方法。
Recent studies found that some mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) were associated with different tumor susceptibility. Among them mtDNA single nucleotide polymorphism (mtSNP) 10398A / G is one of the characteristic polymorphisms identified in the two human mtDNA macro-haplogroups, M and N. Many reports indicate that it is related to the risk of breast cancer in women from Europe, Africa, and other regions. Based on different distributions of 10398A and 10398G alleles in different human race and geographic population, we first investigated the distribution of these two alleles in the Hunan Han ethnic group. The different breast cancer risk in the women of Han population containing different alleles was studied in breast cancer patients and controls. An amplification refractory mutation system (ARMS) was developed to identify individuals'mtDNA 10398A and G allele genotypes. Among 1562 general population in Hunan Province, there were 701 (44.9%) and 861 (55.1%) mtDNA 10398A and G genotypes, respectively, whereas in normal female control group, there were 219 (45.3%) and 265 (54.7%) allele genotypes, respectively, compared with 347 (38.7%) and 552 cases (61.3%), respectively, in breast cancer patients. The current work showed that:(1) mtDNA 10398G genotype was significantly higher in breast cancer group than that of normal controls(p= 0.019), indicating that 10398G allele genotype in the females of Hunan Han population might be a risk factor for breast cancer compared to 10398A genotype; (2)The frequencies of two alleles, mtDNA 10398A and G (-45% and -55%, respectively), in Hunan Han ethnic group are quite different with those in Europeans (-74% and 26%, respectively), Africans (-9% and -91%, respectively), and other Asian regions, such as Japanese (-29% and -71%, respectively). Thus, this study has provided useful mtDNA information in East Asian population to help understanding the migration and evolution of Han Chinese, but also to benefit further studies on the association of disease risk with local people as well.
Recent studies found that some mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) were associated with different tumor susceptibility. Among them mtDNA single nucleotide polymorphism (mtSNP) 10398A / G is one of the characteristic polymorphisms identified in the two human mtDNA macro-haplogroups, M and N. Many reports indicate that it is related to the risk of breast cancer in women from Europe, Africa, and other regions. Based on different distributions of 10398A and 10398G alleles in different human race and geographic population, we first investigated the distribution of these two alleles in the Hunan Han ethnic group. The different breast cancer risk in the women of Han population containing different alleles was studied in breast cancer patients and controls. An amplification refractory mutation system (ARMS) was developed to identify individuals'mtDNA 10398A and G allele genotypes. Among 1562 general population in Hunan Province, there were 701 (44.9%) and 861 (55.1%) mtDNA 10398A and G genotypes, respectively, whereas in normal female control group, there were 219 (45.3%) and 265 (54.7%) allele genotypes, respectively, compared with 347 (38.7%) and 552 cases (61.3%), respectively, in breast cancer patients. The current work showed that:(1) mtDNA 10398G genotype was significantly higher in breast cancer group than that of normal controls(p= 0.019), indicating that 10398G allele genotype in the females of Hunan Han population might be a risk factor for breast cancer compared to 10398A genotype; (2)The frequencies of two alleles, mtDNA 10398A and G (-45% and -55%, respectively), in Hunan Han ethnic group are quite different with those in Europeans (-74% and 26%, respectively), Africans (-9% and -91%, respectively), and other Asian regions, such as Japanese (-29% and -71%, respectively). Thus, this study has provided useful mtDNA information in East Asian population to help understanding the migration and evolution of Han Chinese, but also to benefit further studies on the association of disease risk with local people as well.
引文
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[9]Watson B Jr, Masood A, Renee KA, et al. Mitochondrial DNA mutations in black Americans with hypertension associated end stage renal disease. Am J Kidney Dis,2001,38:529-536
[10]Czarnecka AM, Klemba A, et al. Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor. Oncol Rep,2010,23(2):531-5
[11]Xia P, An HX, et al. Decreased mitochondrial DNA content in blood samples of patients with stage I breast cancer. BMC Cancer,2009,9:454
[12]Kohler C, Radpour R, et al. Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors. Mol Cancer,2009, 8:105
[13]Walter H Pavicic, Martin Laguens, and Silvina M Richard. Analysis association between mitochondrial genome instability and xenobiotic metabolizing genes in human breast cancer. Mol Med,2009,15(5-6):160-165
[14]Theodoratou E, Din FV, et al. Association between common mtDNA variants and all-cause or colorectal cancer mortality. Carcinogenesis,2010,31(2): 296-301
[15]Huang P, Zhang YX, Zhao T. The relationship between copy number and microsatellite instability of mitochondrial DNA in colorectal cancer. Zhonghua Nei Ke Za Zhi,2009,48(10):837-40
[16]Han CB, Ma JM, Xin Y, et al. Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance. World J Gastroenterol,2005,11:31-35
[17]Wu CW, Yin PH, Hung WY, et al. Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosomes Cancer,2005, 44(1):19-28
[18]Jones JB, Song JJ, Hempen PM, et al. Detection of mitochondrial DNA mutations in pan creatic cancer offers a massive advantage over detection of nuclear DNA mutations. Cancer Res,2001,61(4):1299-1304
[19]Petros JA, Baumann AK, et al. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A,2005,102(3):719-24
[20]Anna M. Ray, Kimberly A, et al. Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African-American men. Prostate,2009,69(9):956-960
[21]Aikhionbare FO, Mehrabi S, et al. mtDNA sequence variants in subtypes of epithelial ovarian cancer stages in relation to ethnic and age difference. Diagn Pathol, 2008,3:32
[22]Yoo JH, Suh B, et al. Analysis of fluorescence in situ hybridization, mtDNA quantification, and mtDNA sequence for the detection of early bladder cancer. Cancer Genet Cytogenet,2010,198(2):107-17
[23]Dasgupta S, Yung RC, et al. Following mitochondrial footprints through a long mucosal path to lung cancer. PLoS One,2009,4(8):e6533
[24]Shidara Y, Yamagata K, Kanamori T, Cancer Res. Positive contribution ofpathogenic mutations in the mitochondrial genome to the promotion of cancer byprevention from apoptosis,2005,65(5):1655-1663
[25]Petros JA, Baumann AK, Ruiz-Pesini E, et al. mtDNA mutations increase tumor igenicity in prostate cancer. Proc Natl Acad Sci USA,2005,102(3):719-724
[26]Keshav K.Singh and Mariola Kulawiec. Mitochondrial DNA polymorphism and risk of cancer. Methods Mol Biol,2009,471:291-303
[27]Burdon RH. Superoxide and hydrogen peroxide in relation to mammalian cell proliferation. Free Radic Biol Med,1995,18:775-94
[28]Ambrosone CB, Freudenheim JL, Thompson PA, et al. Manganese superoxide dismutase (MnSOD) genetic polymorphisms, dietary antioxidants, and risk of breast cancer. Cancer Res,1999,59:602-6
[29]Benhar M, Engelberg D, Levitzki A. ROS, stress-activated kinases and stress signaling in cancer. EMBO Rep,2002,3:420-5
[30]Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene,2006,25:4647-62
[31]Sander CS, Chang H, Hamm F, et al. Role of oxidative stress and the antioxidant network in cutaneous carcinogenesis. Int J Dermatol,2004,43:326-35
[32]Jackson AL, Loeb LA. The contribution of endogenous sources of DNA damage to the multiple mutations in cancer. Mutat Res,2001,477:7-21
[33]Kang DH. Oxidative stress, DNA damage, and breast cancer. AACN Clin Issues,2002,13:540-9
[34]Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet,2002,110:130-8
[35]Torroni A, Petrozzi M, D'Urbano L, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet,1997,60:1107-21
[36]An-a Kazuno, Kae Munakata, Takeharu Nagai, et al. Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrixpH and intracellular calcium dynamics. PLoS Genetics,2006,2(8):1167-1177
[37]Cannino G, Di Liegro CM, Rinaldi AM. Nuclear-mitochondrial interaction. Mitochondrion,2007,7(6):359-66
[38]Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet, 2003,19:257-62
[39]Chen CM, Kuan CC, Lee-Chen GJ. Mitochondrial DNA polymorphisms and the risk of Parkinson's disease in Taiwan. J Neural Transm,2007,114(8):1017-21
[40]MP Mims, TG Hayes, S Zheng, et al. Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res, 2006,66:1880-1881
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