Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Human Molecular Genetics

Volumn 23, Issue 11, 2014, Pages 3045-3053

  Stacey, Simon N ^a   Sulem, Patrick ^a   Gudbjartsson, Daniel F ^a   Jonasdottir, Aslaug ^a   Thorleifsson, Gudmar ^a   Gudjonsson, Sigurjon A ^a   Masson, Gisli ^a   Gudmundsson, Julius ^a   Sigurgeirsson, Bardur ^b,c   Benediktsdottir, Kristrun R ^b,c   Thorisdottir, Kristin ^b,c   Ragnarsson, Rafn ^b,c   Fuentelsaz, Victoria ^d   Corredera, Cristina ^e   Grasa, Matilde ^e   Planelles, Dolores ^f   Sanmartin, Onofre ^g,h   Rudnai, Peter ⁱ   Gurzau, Eugene ^j   Koppova, Kvetoslava ^k   Hemminki, Kari ^l   Nexø, Bjørn A ^m   Tjønneland, Anne ⁿ   Overvad, Kim ^m   Johannsdottir, Hrefna ^a   Helgadottir, Hafdis T ^a   Thorsteinsdottir, Unnur ^a,c   Kong, Augustine ^a   Vogel, Ulla ^o   Kumar, Rajiv ^l   Nagore, Eduardo ^g,h   Mayordomo, José I ^p   Rafnar, Thorunn ^a   Olafsson, Jon H ^b,c   Stefansson, Kari ^a,c   more..

^a DECODE GENETICS   (Iceland)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c UNIVERSITY OF ICELAND   (Iceland)

^d HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^f Centro de Transfusion de la Comunidad Valenciana   (Spain)

^g INSTITUTO VALENCIANO DE ONCOLOGÍA   (Spain)

^h UNIVERSIDAD CATÓLICA DE VALENCIA SAN VICENTE MÁRTIR   (Spain)

ⁱ NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^j BABE BOLYAI UNIVERSITY   (Romania)

^k Regional Authority of Public Health   (Slovakia)

^l GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^m AARHUS UNIVERSITY   (Denmark)

ⁿ DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

^o NATIONAL RESEARCH CENTRE FOR THE WORKING ENVIRONMENT   (Denmark)

^p UNIVERSITY OF ZARAGOZA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; GUANINE NUCLEOTIDE BINDING PROTEIN; MEMBRANE ANTIGEN; REGULATOR OF G-PROTEIN SIGNALING 22, HUMAN; TGM3 PROTEIN, HUMAN;

ARTICLE; BASAL CELL CARCINOMA; CANCER RISK; CELL DIFFERENTIATION; GENE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; GERMLINE MUTATION; HUMAN; ICELAND; PRIORITY JOURNAL; RGS22 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TGM3 GENE; ADOLESCENT; ADULT; AGED; CHILD; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; GERM CELL; MALE; METABOLISM; MIDDLE AGED; SKIN TUMOR; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTIGENS, SURFACE; CARCINOMA, BASAL CELL; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GERM CELLS; GERM-LINE MUTATION; GTP-BINDING PROTEIN REGULATORS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SKIN NEOPLASMS; TRANSGLUTAMINASES; YOUNG ADULT;

EID: 84899991243     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt671     Document Type: Article

References (39)

1. Epstein, E.H. (2008) Basal cell carcinomas: attack of the hedgehog. Nat. Rev. Cancer, 8, 743-754.
2. Castori, M.,Morrone,A.,Kanitakis, J. andGrammatico, P. (2012)Genetic skin diseases predisposing to basal cell carcinoma. Eur. J. Dermatol., 22, 299-309.
3. Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G. et al. (2008)ASIP and TYRpigmentation variants associate withcutaneousmelanoma and basal cell carcinoma.Nat.Genet.,40,886-891.
4. Nan, H.,Xu,M.,Kraft, P.,Qureshi, A.A.,Chen,C.,Guo,Q.,Hu, F.B.,Curhan, G., Amos, C.I.,Wang, L.-E. et al. (2011) Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum. Mol. Genet., 20, 3718-3724.
5. Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H. et al. (2009) Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat. Genet., 41, 221-227.
6. Stacey, S.N., Gudbjartsson, D.F., Sulem, P., Bergthorsson, J.T., Kumar, R., Thorleifsson, G., Sigurdsson, A., Jakobsdottir, M., Sigurgeirsson, B., Benediktsdottir, K.R. et al. (2008) Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. Nat. Genet., 40, 1313-1318.
7. Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R. et al. (2009) New common variants affecting susceptibility to basal cell carcinoma. Nat. Genet., 41, 909-914.
8. Stacey, S.N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D.F., Magnusson, O.T., Gudjonsson, S.A., Sigurgeirsson, B., Thorisdottir, K. et al. (2011)Agermline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat. Genet., 43, 1098-1103.
9. Scherer, D. and Kumar, R. (2010) Genetics of pigmentation in skin cancer-a review. Mutat. Res., 705, 141-153.
10. Holm, H., Gudbjartsson, D.F., Sulem, P., Masson, G., Helgadottir, H.T., Zanon, C., Magnusson, O.T., Helgason, A., Saemundsdottir, J., Gylfason, A. et al. (2011)Arare variant inMYH6is associated with high risk of sick sinus syndrome. Nat. Genet., 43, 316-320.
11. Kong, A., Masson, G., Frigge, M.L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P.I., Ingason, A., Steinberg, S., Rafnar, T. et al. (2008) Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet., 40, 1068-1075.
12. Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K.T., Jonasdottir, A. et al. (2009) Parental origin of sequence variants associated with complex diseases. Nature, 462, 868-874.
13. Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. and Hirschhorn, J.N. (2003) Meta-analysis of genetic association studies supports a contribution of commonvariants to susceptibility tocommon disease. Nat. Genet., 33, 177-182.
14. Trikalinos, T.A., Ntzani, E.E., Contopoulos-Ioannidis, D.G. and Ioannidis, J.P.A. (2004) Establishment of genetic associations for complex diseases is independent of early study findings. Eur. J. Hum. Genet., 12, 762-769.
15. Kutyavin, I.V., Milesi,D., Belousov,Y., Podyminogin,M.,Vorobiev,A.,Gorn, V., Lukhtanov, E.A., Vermeulen, N.M.J. andMahoney,W. (2006) A novel endonuclease IV post-PCR genotyping system. Nucleic Acids Res., 34, e128.
16. Dunham, I., Kundaje, A., Aldred, S.F., Collins, P.J., Davis, C.A., Doyle, F., Epstein, C.B., Frietze, S., Harrow, J., Kaul, R. et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
17. ENCODE (2011) A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol., 9, e1001046.
18. Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A.S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G.B., Gunnarsdottir, S. et al. (2008) Genetics of gene expression and its effect on disease. Nature, 452, 423-428.
19. Hu, Y., Xing, J., Chen, L., Guo, X., Du, Y., Zhao, C., Zhu, Y., Lin, M., Zhou, Z. and Sha, J. (2008) RGS22, a novel testis-specific regulator of G-protein signaling involved in human and mouse spermiogenesis along with GNA12/ 13 subunits. Biol. Reprod., 79, 1021-1029.
20. Hu, Y., Xing, J., Wang, L., Huang, M., Guo, X., Chen, L., Lin, M., Zhou, Y., Liu, Z., Zhou, Z. et al. (2011) RGS22, a novel cancer/testis antigen, inhibits epithelial cell invasion and metastasis. Clin. Exp. Metastasis, 28, 541-549.
21. Yamane, A., Fukui, M., Sugimura, Y., Itoh, M., Alea, M.P., Thomas, V., El Alaoui, S., Akiyama, M. and Hitomi, K. (2010) Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles. FEBS J., 277, 3564-3574.
22. Hitomi, K. (2005) Transglutaminases in skin epidermis. Eur. J. Dermatol., 15, 313-319.
23. Schmuth, M., Gruber, R., Elias, P.M. and Williams, M.L. (2007) Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv. Dermatol., 23, 231-256.
24. Thibaut, S., Cavusoglu, N., de Becker, E., Zerbib, F., Bednarczyk, A., Schaeffer, C., van Dorsselaer, A. and Bernard, B.A. (2009) Transglutaminase-3 enzyme: A putative actor in human hair shaft scaffolding? J. Invest. Dermatol., 129, 449-459.
25. Matsuki, M., Yamashita, F., Ishida-Yamamoto, A., Yamada, K., Kinoshita, C., Fushiki, S., Ueda, E., Morishima, Y., Tabata, K., Yasuno, H. et al. (1998) Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc. Natl. Acad. Sci. U. S. A., 95, 1044-1049.
26. John, S., Thiebach, L., Frie, C., Mokkapati, S., Bechtel, M., Nischt, R., Rosser-Davies, S., Paulsson, M. and Smyth, N. (2012) Epidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrier. PloS One, 7, e34252.
27. Sárdy, M., Kárpáti, S., Merkl, B., Paulsson, M. and Smyth, N. (2002) Epidermal transglutaminase (TGase 3) is the autoantigen of dermatitis herpetiformis. J. Exp. Med., 195, 747-757.
28. Uemura, N., Nakanishi, Y., Kato, H., Saito, S., Nagino, M., Hirohashi, S. and Kondo, T. (2009) Transglutaminase 3 as a prognostic biomarker in esophageal cancer revealed by proteomics. Int. J. Cancer, 124, 2106-2115.
29. Eckhart, L., Lippens, S., Tschachler, E. and Declercq, W. (2013) Cell death by cornification. Biochim. Biophys. Acta. DOI: 10.1016/j.bbamcr. 2013.06.010.
30. Mueller, M.M. (2006) Inflammation in epithelial skin tumours: old stories and new ideas. Eur. J. Cancer, 42, 735-744.
31. Depianto, D., Kerns, M.L., Dlugosz, A.A. and Coulombe, P.A. (2010) Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin. Nat. Genet., 42, 910-914.
32. Quigley, D.A., To, M.D., Pérez-Losada, J., Pelorosso, F.G., Mao, J.-H., Nagase, H., Ginzinger, D.G. and Balmain, A. (2009) Genetic architecture of mouse skin inflammation and tumour susceptibility. Nature, 458, 505-508.
33. Cataisson, C., Ohman, R., Patel, G., Pearson, A., Tsien, M., Jay, S., Wright, L., Hennings, H. and Yuspa, S.H. (2009) Inducible cutaneous inflammation reveals a protumorigenic role for keratinocyte CXCR2 in skin carcinogenesis. Cancer Res., 69, 319-328.
34. Scherer, D., Bermejo, J.L., Rudnai, P., Gurzau, E., Koppova, K., Hemminki, K. and Kumar, R. (2008) MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. Int. J. Cancer, 122, 1787-1793.
35. Tjønneland, A., Olsen, A., Boll, K., Stripp, C., Christensen, J., Engholm, G. and Overvad, K. (2007) Study design, exposure variables, and socioeconomic determinants of participation in diet, cancer and health: a population-based prospective cohort study of 57,053 men and women in Denmark. Scand. J. Public Health, 35, 432-441.
36. Higgins, J.P.T. and Thompson, S.G. (2002) Quantifying heterogeneity in a meta-analysis. Stat. Med., 21, 1539-1558.
37. Ward, L.D. and Kellis, M. (2011) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. DOI: 10.1093/nar/gkr917.
38. Boyle, A.P., Hong, E.L., Hariharan, M., Cheng, Y., Schaub, M.A., Kasowski, M., Karczewski, K.J., Park, J., Hitz, B.C., Weng, S. et al. (2012) Annotation of functional variation in personal genomes using RegulomeDB. Genome Res., 22, 1790-1797.
39. McVean, G.A.T., Myers, S.R., Hunt, S., Deloukas, P., Bentley, D.R. and Donnelly, P. (2004) The fine-scale structure of recombination rate variation in the human genome. Science, 304, 581-584.