Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Arroyo Berdugo, Yoana ^a   Alonso, Santos ^b   Ribas, Glora ^c   Ibarrola Villava, Maider ^c   Peña Chilet, Mara ^c   Mart́nez Cadenas, Conrado ^d   Gardeazabal, Jesus ^e   Raton Nieto, Juan Antonio ^e   Sanchez Dez, Ana ^e   Careaga, Jesus Mara ^e   Pérez Yarza, Gorka ^a   Carretero, Gregorio ^f   Martín González, Manuel ^g   Gómez Fernández, Cristina ^h   Nagore, Eduardo ⁱ   Asumendi, Aintzane ^a   Boyano, Mara Dolores ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b Faculty of Science and Technology   (Spain)

^c INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

^d UNIVERSITAT JAUME I   (Spain)

^e BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^f HOSPITAL UNIVERSITARIO DE GRAN CANARIA DR NEGRÍN   (Spain)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ Instituto Valenciano de Oncologa   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTATION; ANXA5 GENE; ARTICLE; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN CELL; ILKAP GENE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MELANOMA; ONCOGENE; POPULATION STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; GENETIC PREDISPOSITION; GENETICS; TUMOR CELL LINE;

ILKAP PROTEIN, HUMAN; LIPOCORTIN 5; PHOSPHOPROTEIN PHOSPHATASE;

ANNEXIN A5; CASE-CONTROL STUDIES; CELL LINE, TUMOR; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MELANOMA; PHOSPHOPROTEIN PHOSPHATASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84899672657     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0095522     Document Type: Article

References (42)

1. Denninghoff V, Falco J, Curutchet HP, Elsner B (2006) Estudio del ganglio centinela, Diagnóstico y tratamiento del Melanoma Maligno Cutáneo, estadíos I y II. MEDICINA (Buenos Aires) 66: 144-146.
2. Reinhard Dummer, Mark R Pittelkow, Keiji Iwatsuki, Adèle Green, Nagwa M Elwan (2011) Skin Cancer-A World-Wide Perspective: A World-wide Perspective. Springer. 409 p.
3. Cabanes Domenech A, Pérez-Gómez B, Aragonés N, Pollán M, López-Abente G. La situación del cáncer en España, 1975-2006. A ́ rea de Epidemiología Ambiental y Cáncer, Centro Nacional de Epidemiología ISCIII, Madrid. 2009. Available from: http://www.isciii.es/htdocs/pdf/epicancerjunio2009.pdf.
4. Leitner RMC (2006) Epidemiología del melanoma cutáneo. Rev Argent Dermatol 87: 86-97.
5. Ghiorzo P, Bonelli L, Pastorino L, Bruno W, Barile M, et al. (2012) MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. Exp Dermatol 21(9): 718-720.
6. Hsu I, Chen R, Ramesh A, Corona E, Kang HP, et al. (2013) Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS). BMC Med Genet 20; 14: 62.
7. Russak JE, Rigel DS (2012) Risk factors for the development of primary cutaneous melanoma. Dermatol Clin 30(3): 363-368.
8. Hayward N (2000) New developments in melanoma genetics. Curr Oncol Rep 2: 300-306.
9. Udayakumar D, Tsao H (2009) Melanoma genetics: an update on risk-associated genes. Hematol Oncol Clin North Am 23: 415-29.
10. Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, et al. (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 7(2): 209-216.
11. Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, et al. (1996) Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12(1): 97-99.
12. Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, et al. (2008) ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet 40(7): 886-891.
13. Raimondi S, Sera F, Gandini S, Iodice S, Caini S, et al. (2008) MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer 122(12): 2753-2760.
14. Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, et al. (2011) Genomewide association study identifies three new melanoma susceptibility loci. Nat Genet 43(11): 1108-1113.
15. Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, et al. (2008) SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat 29(9): 1161-1167.
16. Ibarrola-Villava M, Fernandez LP, Alonso S, Boyano MD, Peñ a-Chilet M, et al. (2011) A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS One 6(4): e19271.
17. Ibarrola-Villava M, Peñ a-Chilet M, Fernandez LP, Aviles JA, Mayor M, et al. (2011) Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility. Eur J Cancer 47(17): 2618-2625.
18. Ibarrola-Villava M, Fernandez LP, Pita G, Bravo J, Floristan U, Sendagorta E, et al. (2010) Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. Exp Dermatol 19(9): 836-844.
19. Ward KA, Lazovich D, Hordinsky MK (2012) Germline melanoma susceptibility and prognostic genes: a review of the literature. J Am Acad Dermatol 67(5): 1055-1067
20. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2): 263-265.
21. Gayán J, Galan JJ, González-Pérez A, Sáez ME, Martínez-Larrad MT, et al. (2010) Genetic structure of the Spanish population. BMC Genomics 11: 326.
22. Laohavisit A, Davies JM (2009) Multifunctional annexins. Plant Sci 177: 532-539.
23. Moss SE, Morgan RO (2004) The annexins. Genome Biol 5(4): 219.
24. Gerke V, Moss SE (2002) Annexins: from structure to function. Physiol Rev 82: 331-371.
25. Rescher U, Gerke V (2004) Annexins-unique membrane binding proteins with diverse functions. J Cell Sci 117: 2631-2639.
26. Huber R, Schneider M, Mayr I, Römisch J, Paques EP (1990) The calcium binding sites in human annexin V by crystal structure analysis at 2.0 A resolution. Implications for membrane binding and calcium channel activity. FEBS Lett 275(1-2): 15-21.
27. Peng B, Guo C, Guan H, Liu S, Sun MZ (2013) Annexin A5 as a potential marker in tumors. Clin Chim Acta 427C: 42-48.
28. Deng S, Wang J, Hou L, Li J, Chen G, et al. (2013) Annexin A1, A2, A4 and A5 play important roles in breast cancer, pancreatic cancer and laryngeal carcinoma, alone and/or synergistically. Oncol Lett 5(1): 107-112.
29. Wehder L, Arndt S, Murzik U, Bosserhoff AK, Kob R, et al. (2009) Annexin A5 is involved in migration and invasion of oral carcinoma. Cell Cycle 8(10): 1552-1558.
30. Fardo DW, Becker KD, Bertram L, Tanzi RE, Lange C (2009) Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy-Weinberg equilibrium. Eur J Hum Genet 17(12): 1676-1682.
31. Crocetti E, Buzzoni C, Chiarugi A, Nardini P, Pimpinelli N (2012) Relationship between Latitude and Melanoma in Italy. ISRN Oncol 2012: 864680.
32. Di Gaetano C, Matullo G, Piazza A, Ursino M, Gasparini M (2013) A proximity-based method to identify genomic regions correlated with a continuously varying environmental variable. Evol Bioinform Online 9: 29-42.
33. Günther T, Coop G (2013) Robust identification of local adaptation from allele frequencies. Genetics 195(1): 205-220.
34. Kumar AS, Naruszewicz I, Wang P, Leung-Hagesteijn C, Hannigan GE (2004) ILKAP regulates ILK signaling and inhibits anchorage-independent growth. Oncogene 23(19): 3454-3461.
35. Tamura S, Toriumi S, Saito J, Awano K, Kudo TA, et al. (2006) PP2C family members play key roles in regulation of cell survival and apoptosis. Cancer Sci 97(7): 563-567.
36. Zhou W, Cao H, Yang X, Cong K, Wang W, et al. (2013) Characterization of nuclear localization signal in the N terminus of integrin-linked kinase-associated phosphatase (ILKAP) and its essential role in the down-regulation of RSK2 protein signaling. J Biol Chem 288(9): 6259-6271.
37. Dai DL, Makretsov N, Campos EI, Huang C, Zhou Y, et al. (2003) Increased expression of integrin-linked kinase is correlated with melanoma progression and poor patient survival. Clin Cancer Res 9(12): 4409-4414.
38. Kim BC, Kim WY, Park D, Chung WH, Shin KS, Bhak J (2008) SNP@ Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions. BMC Bioinformatics 9 Suppl 1: S2.
39. Boyano MD, García-Vázquez MD, Gardeazabal J, García de Galdeano A, Smith-Zubiaga I, et al. (1997) Serum-soluble IL-2 receptor and IL-6 in patients with melanoma. Oncology 54(5): 400-406.
40. Pfaffl MW (2001) A new mathematical model for relative quantification in realtime RT-PCR. Nucleic Acids Res 29(9): e45.
41. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, et al. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3(7): RESEARCH0034.
42. Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123(3): 585-595.