Skip to main content
Erschienen in: Pathology & Oncology Research 3/2011

01.09.2011 | Research

Association of mtDNA D-Loop Polymorphisms with Risk of Gastric Cancer in Chinese Population

verfasst von: Li Wei, Yong Zhao, Tian-kang Guo, Pei-qiang Li, Hua Wu, Han-bing Xie, Ke-jun Ma, Feng Gao, Xiao-dong Xie

Erschienen in: Pathology & Oncology Research | Ausgabe 3/2011

Einloggen, um Zugang zu erhalten

Abstract

The aim of present study was to evaluate the association of common polymorphisms detected in mitochondrial DNA (mtDNA) D-loop region (mononucleotide repetitive D310, single nucleotide polymorphism (SNP) D16521) with susceptibility to gastric cancer (GC) in northwestern Chinese population. A total of 180 GC patients and 218 healthy controls were investigated by using PCR- denaturing high performance liquid chromatography (DHPLC) assay. Genotype and allele distributions and haplotype construction were analyzed in case–control study. We found D310 and D16521 heteroplasmy were significantly different between GC cases and controls (p < 0.05), and D16521 homoplasmy showed association with histological grade of GC (p < 0.05). Haplotype 7C/T, 8C/C and 9C/C had significant association with GC risk implied from analysis of D310 and D16521. Taken together, these findings suggested that mtDNA D-Loop polymorphisms and haplotypes may contribute to genetic susceptibility to GC in Chinese population.
Literatur
1.
Zurück zum Zitat Sun XD, Mu R, Zhou YS, Dai XD, Zhang SW, Lu FZ, Qiao YL et al (2004) Analysis of mortality rate of stomach caner and its trend in twenty years in China. (Article in Chinese). Zhonghua Zhong Liu Za Zhi 26(1):4–9PubMed Sun XD, Mu R, Zhou YS, Dai XD, Zhang SW, Lu FZ, Qiao YL et al (2004) Analysis of mortality rate of stomach caner and its trend in twenty years in China. (Article in Chinese). Zhonghua Zhong Liu Za Zhi 26(1):4–9PubMed
2.
Zurück zum Zitat Parkin DM, Bray F, Ferlay J, Pisani P (2005) Global cancer statistics, 2002. CA Cancer J Clin 55:74–108PubMedCrossRef Parkin DM, Bray F, Ferlay J, Pisani P (2005) Global cancer statistics, 2002. CA Cancer J Clin 55:74–108PubMedCrossRef
3.
Zurück zum Zitat Stadtlander CT, Waterbor J (1999) Molecular epidemiology pathogenesis and prevention of gastric cancer. Carcinogenesis 20:2195–2207PubMedCrossRef Stadtlander CT, Waterbor J (1999) Molecular epidemiology pathogenesis and prevention of gastric cancer. Carcinogenesis 20:2195–2207PubMedCrossRef
4.
Zurück zum Zitat Barber M, Fitzgerald RC, Caldas C (2006) Familial gastric cancer—aetiology and pathogenesis. Best Pract Res Clin Gastroenterol 207:21–34 Barber M, Fitzgerald RC, Caldas C (2006) Familial gastric cancer—aetiology and pathogenesis. Best Pract Res Clin Gastroenterol 207:21–34
5.
Zurück zum Zitat Brenner C, Kroemer G (2000) Apoptosis, mitochondria, the death signal integrators. Science 289:1150–1151PubMedCrossRef Brenner C, Kroemer G (2000) Apoptosis, mitochondria, the death signal integrators. Science 289:1150–1151PubMedCrossRef
6.
Zurück zum Zitat Modica-Napolitano JS, Kulaviec M, Singh KK (2007) Mitochondria and human cancer. Curr Mol Med 7:121–131PubMedCrossRef Modica-Napolitano JS, Kulaviec M, Singh KK (2007) Mitochondria and human cancer. Curr Mol Med 7:121–131PubMedCrossRef
7.
Zurück zum Zitat Fliss MS, Usadel H, Caballero OL, Wu L, Buta MR, Eleff SM et al (2000) Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 287:2017–2019PubMedCrossRef Fliss MS, Usadel H, Caballero OL, Wu L, Buta MR, Eleff SM et al (2000) Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 287:2017–2019PubMedCrossRef
8.
Zurück zum Zitat Parr RL, Dakubo GD, Thayer RE, McKenney K, Birch-Machin MA (2006) Mitochondrial DNA as a potential tool for early cancer detection. Hum Genomics 24:252–257 Parr RL, Dakubo GD, Thayer RE, McKenney K, Birch-Machin MA (2006) Mitochondrial DNA as a potential tool for early cancer detection. Hum Genomics 24:252–257
9.
Zurück zum Zitat Michikawa Y, Mazzucchelli F, Bresolin N et al (1999) Aging dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 286:774–779PubMedCrossRef Michikawa Y, Mazzucchelli F, Bresolin N et al (1999) Aging dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 286:774–779PubMedCrossRef
10.
Zurück zum Zitat Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147PubMedCrossRef Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147PubMedCrossRef
11.
Zurück zum Zitat Tamura G, Nishizuka S, Maesawa C, Suzuki Y, Iwaya T, Sakata K, Endoh YT, Motoyama T (1999) Mutations in mitochondrial control region DNA in gastric tumors of Japanese patients. Eur J Cancer 35:316–319PubMedCrossRef Tamura G, Nishizuka S, Maesawa C, Suzuki Y, Iwaya T, Sakata K, Endoh YT, Motoyama T (1999) Mutations in mitochondrial control region DNA in gastric tumors of Japanese patients. Eur J Cancer 35:316–319PubMedCrossRef
12.
Zurück zum Zitat Han CB, Li F, Zhao YJ, Ma JM, Wu DY, Zhang YK, Xin Y (2003) Variations of mitochondrial D-loop region plus downstream gene 12S rRNA-tRNAPhe and gastric carcinomas. World J Gastroenterol 9:1925–1929PubMed Han CB, Li F, Zhao YJ, Ma JM, Wu DY, Zhang YK, Xin Y (2003) Variations of mitochondrial D-loop region plus downstream gene 12S rRNA-tRNAPhe and gastric carcinomas. World J Gastroenterol 9:1925–1929PubMed
13.
Zurück zum Zitat Wu CW, Yin PH, Hung WY, Li AFY, Li SH, Chi CW, Wei YH, Lee HC (2005) Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosom Cancer 44:19–28PubMedCrossRef Wu CW, Yin PH, Hung WY, Li AFY, Li SH, Chi CW, Wei YH, Lee HC (2005) Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosom Cancer 44:19–28PubMedCrossRef
14.
Zurück zum Zitat Sanchez-Cespedes M, Parrella P, Nomoto S, Cohen D, Xiao Y, Esteller M, Jeronimo C, Jordan RC, Nicol T, Koch WM, Schoenberg M, Mazzarelli P et al (2001) Identification of a mononucleotide repeat as a major target for mitochondrial DNA alterations in human tumors. Cancer Res 61:7015–7019PubMed Sanchez-Cespedes M, Parrella P, Nomoto S, Cohen D, Xiao Y, Esteller M, Jeronimo C, Jordan RC, Nicol T, Koch WM, Schoenberg M, Mazzarelli P et al (2001) Identification of a mononucleotide repeat as a major target for mitochondrial DNA alterations in human tumors. Cancer Res 61:7015–7019PubMed
15.
Zurück zum Zitat Lee HC, Yin PH, Lin JC, Wu CC, Chen CY, Wu CW, Chi CW, Tam TN, Wei YH (2005) Mitochondrial genome instability and mtDNA depletion in human cancers. Ann NY Acad Sci 1042:109–122PubMedCrossRef Lee HC, Yin PH, Lin JC, Wu CC, Chen CY, Wu CW, Chi CW, Tam TN, Wei YH (2005) Mitochondrial genome instability and mtDNA depletion in human cancers. Ann NY Acad Sci 1042:109–122PubMedCrossRef
16.
Zurück zum Zitat Schwartz S Jr, Alazzouzi H, Perucho M (2006) Mutational dynamic in human tumors confirms the neutral intrinsic instability of the mitochondrial D-loop polycytidine repeat. Genes Chromosom Cancer 45:770–780PubMedCrossRef Schwartz S Jr, Alazzouzi H, Perucho M (2006) Mutational dynamic in human tumors confirms the neutral intrinsic instability of the mitochondrial D-loop polycytidine repeat. Genes Chromosom Cancer 45:770–780PubMedCrossRef
17.
Zurück zum Zitat Kose K, Hiyama T, Tanaka S, Yoshihara M, Yasui W, Chayama K (2005) Somatic mutations of mitochondrial DNA in digestive tract cancers. J Gastroenterol Hepatol 20:1679–1684PubMedCrossRef Kose K, Hiyama T, Tanaka S, Yoshihara M, Yasui W, Chayama K (2005) Somatic mutations of mitochondrial DNA in digestive tract cancers. J Gastroenterol Hepatol 20:1679–1684PubMedCrossRef
18.
Zurück zum Zitat Chang S-C, Lin P-C, Yang S-H, Wang H-S, Liang W-Y, Lin J-K (2009) Mitochondrial D-loop mutation is a common event in colorectal cancers with p53 mutations. Int J Colorectal Dis 24:623–628PubMedCrossRef Chang S-C, Lin P-C, Yang S-H, Wang H-S, Liang W-Y, Lin J-K (2009) Mitochondrial D-loop mutation is a common event in colorectal cancers with p53 mutations. Int J Colorectal Dis 24:623–628PubMedCrossRef
19.
Zurück zum Zitat Saccone C, Attimonelli M, Sibs E (1987) Structural elements highly preserved during the evolution of the D-Loop region in vertebrate mitochondrial DNA. J Mol Evol 26:205–211PubMedCrossRef Saccone C, Attimonelli M, Sibs E (1987) Structural elements highly preserved during the evolution of the D-Loop region in vertebrate mitochondrial DNA. J Mol Evol 26:205–211PubMedCrossRef
20.
Zurück zum Zitat Pesole G, Gissi C, De Chirico A, Saccone C (1999) Nucleotide substitution rate of mammalian mitochondrial genomes. J Mol Evol 48:427–434PubMedCrossRef Pesole G, Gissi C, De Chirico A, Saccone C (1999) Nucleotide substitution rate of mammalian mitochondrial genomes. J Mol Evol 48:427–434PubMedCrossRef
21.
Zurück zum Zitat Montoya J, López-Gallardo E, Díez-Sánchez C, López-Pérez MJ (2009) 20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. Biochim Biophys Acta 1787:476–483PubMedCrossRef Montoya J, López-Gallardo E, Díez-Sánchez C, López-Pérez MJ (2009) 20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. Biochim Biophys Acta 1787:476–483PubMedCrossRef
22.
Zurück zum Zitat Solaini ER-PG, Harris DA, Lenaz G, Sgarbi G, Baracca A (2008) The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics. Biochim Biophys Acta 1777:941–945PubMedCrossRef Solaini ER-PG, Harris DA, Lenaz G, Sgarbi G, Baracca A (2008) The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics. Biochim Biophys Acta 1777:941–945PubMedCrossRef
23.
Zurück zum Zitat Anderson S, Bankier AT, Barrel BG, De Bruijn MHL, Coulson AR, Drouin J, Eperson IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465PubMedCrossRef Anderson S, Bankier AT, Barrel BG, De Bruijn MHL, Coulson AR, Drouin J, Eperson IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465PubMedCrossRef
24.
Zurück zum Zitat Broder AC (1925) The grading of carcinoma. Minn Med 8:726–730 Broder AC (1925) The grading of carcinoma. Minn Med 8:726–730
25.
Zurück zum Zitat Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15:97–98PubMedCrossRef Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15:97–98PubMedCrossRef
26.
Zurück zum Zitat Habano W, Sugai T, Nakamura SI et al (2000) Microsatellite instability and mutation of mitochondrial and nuclear DNA in gastric carcinoma. Gastroenterology 118:835–841PubMedCrossRef Habano W, Sugai T, Nakamura SI et al (2000) Microsatellite instability and mutation of mitochondrial and nuclear DNA in gastric carcinoma. Gastroenterology 118:835–841PubMedCrossRef
27.
Zurück zum Zitat Mambo E, Chatterjee A, Xing M et al (2005) Tumor-specific changes in mtDNA content in human cancer. Int J Cancer 116:920–924PubMedCrossRef Mambo E, Chatterjee A, Xing M et al (2005) Tumor-specific changes in mtDNA content in human cancer. Int J Cancer 116:920–924PubMedCrossRef
28.
Zurück zum Zitat Sbisà E, Tanzariello R, Reyes A, Pesole G, Saccone C (1997) Mammalian mitochondrial D-loop region structural analysis: identification of new conserved sequences and their functional and evolutionary implications. Gene 205:125–140PubMedCrossRef Sbisà E, Tanzariello R, Reyes A, Pesole G, Saccone C (1997) Mammalian mitochondrial D-loop region structural analysis: identification of new conserved sequences and their functional and evolutionary implications. Gene 205:125–140PubMedCrossRef
29.
Zurück zum Zitat Pham XH, Farge G, Shi Y, Gaspari M, Gustafsson CM, Falkenberg M (2006) Conserved sequence box II directs transcription terminationand primer formation in mitochondria. J Biol Chem 281:647–652CrossRef Pham XH, Farge G, Shi Y, Gaspari M, Gustafsson CM, Falkenberg M (2006) Conserved sequence box II directs transcription terminationand primer formation in mitochondria. J Biol Chem 281:647–652CrossRef
30.
Zurück zum Zitat Bandy B, Davison AJ (1990) Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging? Free Radic Biol Med 8:523–539PubMedCrossRef Bandy B, Davison AJ (1990) Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging? Free Radic Biol Med 8:523–539PubMedCrossRef
31.
Zurück zum Zitat Chinnery PF, Samuels DC, Elson J, Turnbull DM (2002) Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet 360:1323–1325PubMedCrossRef Chinnery PF, Samuels DC, Elson J, Turnbull DM (2002) Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet 360:1323–1325PubMedCrossRef
32.
Zurück zum Zitat Verma M, Kumar D (2007) Application of mitochondrial genome information in cancer epidemiology. Clin Chim Acta 383:41–50PubMedCrossRef Verma M, Kumar D (2007) Application of mitochondrial genome information in cancer epidemiology. Clin Chim Acta 383:41–50PubMedCrossRef
33.
Zurück zum Zitat Modica-Napolitano JS, Singh KK (2002) Mitochondria as targets for detection and treatment of cancer. Expert Rev Mol Med, Cambridge University Press, pp 1–19 Modica-Napolitano JS, Singh KK (2002) Mitochondria as targets for detection and treatment of cancer. Expert Rev Mol Med, Cambridge University Press, pp 1–19
34.
Zurück zum Zitat Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J (2005) Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol Genet Metab 84:61–74PubMedCrossRef Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J (2005) Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol Genet Metab 84:61–74PubMedCrossRef
Metadaten
Titel
Association of mtDNA D-Loop Polymorphisms with Risk of Gastric Cancer in Chinese Population
verfasst von
Li Wei
Yong Zhao
Tian-kang Guo
Pei-qiang Li
Hua Wu
Han-bing Xie
Ke-jun Ma
Feng Gao
Xiao-dong Xie
Publikationsdatum
01.09.2011
Verlag
Springer Netherlands
Erschienen in
Pathology & Oncology Research / Ausgabe 3/2011
Print ISSN: 1219-4956
Elektronische ISSN: 1532-2807
DOI
https://doi.org/10.1007/s12253-011-9378-7

Weitere Artikel der Ausgabe 3/2011

Pathology & Oncology Research 3/2011 Zur Ausgabe

Nodal-negativ nach neoadjuvanter Chemo: Axilladissektion verzichtbar?

03.05.2024 Mammakarzinom Nachrichten

Wenn bei Mammakarzinomen durch eine neoadjuvante Chemotherapie ein Downstaging von nodal-positiv zu nodal-negativ gelingt, scheint es auch ohne Axilladissektion nur selten zu axillären Rezidiven zu kommen.

Wo hapert es noch bei der Umsetzung der POMGAT-Leitlinie?

03.05.2024 DCK 2024 Kongressbericht

Seit November 2023 gibt es evidenzbasierte Empfehlungen zum perioperativen Management bei gastrointestinalen Tumoren (POMGAT) auf S3-Niveau. Vieles wird schon entsprechend der Empfehlungen durchgeführt. Wo es im Alltag noch hapert, zeigt eine Umfrage in einem Klinikverbund.

Bestrahlung nach Prostatektomie: mehr Schaden als Nutzen?

02.05.2024 Prostatakarzinom Nachrichten

Eine adjuvante Radiotherapie nach radikaler Prostata-Op. bringt den Betroffenen wahrscheinlich keinen Vorteil. Im Gegenteil: Durch die Bestrahlung steigt offenbar das Risiko für Harn- und Stuhlinkontinenz.

Endlich: Zi zeigt, mit welchen PVS Praxen zufrieden sind

IT für Ärzte Nachrichten

Darauf haben viele Praxen gewartet: Das Zi hat eine Liste von Praxisverwaltungssystemen veröffentlicht, die von Nutzern positiv bewertet werden. Eine gute Grundlage für wechselwillige Ärzte und Psychotherapeuten.

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.