Polymorphisms in STK17A gene are associated with systemic lupus erythematosus and its clinical manifestations

Gene

Volumn 527, Issue 2, 2013, Pages 435-439

  da Silva Fonseca, Andréia Maria ^a   de Azevedo Silva, Jaqueline ^a   Pancotto, João Alexandre Trés ^b   Donadi, Eduardo Antônio ^c   Segat, Ludovica ^d   Crovella, Sergio ^a   Sandrin Garcia, Paula ^a  

^a FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^b FEDERAL UNIVERSITY OF ESPÍRITO SANTO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Serine threonine protein kinase 17A; Single nucleotide polymorphisms; STK17A; Systemic lupus erythematosus

Indexed keywords

GENOMIC DNA; PROTEIN SERINE THREONINE KINASE; SERINE THREONINE PROTEIN KINASE 17A; UNCLASSIFIED DRUG;

ARTHRITIS; BRAZIL; DISEASE PREDISPOSITION; DNA POLYMORPHISM; DNA REPAIR; FAMILY HISTORY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; INFLAMMATION; INFORMED CONSENT; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVIEW; SKIN COLOR; SYSTEMIC LUPUS ERYTHEMATOSUS;

ACR; AMERICAN COLLEGE OF RHEUMATOLOGY CLASSIFICATION CRITERIA; ANTIBODY ANTIPHOSPHOLIPID; APS; CTLA-4; CYTOTOXIC T-LYMPHOCYTE ANTIGEN 4; DAP PROTEIN KINASE RELATED APOPTOSIS-INDUCING KINASE 1; DEOXYRIBONUCLEIC ACID; DNA; DNA DEPENDENT PROTEIN KINASE CATALYTIC SUBUNIT; DNA PKS; DNA REPAIR OF DOUBLE STRAND BREAKS; DRAK1; DSBS; GENOME WIDE ASSOCIATION STUDIES; GWAS; INTEGRIN ALPHA M; INTERFERON REGULATORY FACTOR 5; IRF5; ITGAM; LD; LINKAGE DISEQUILIBRIUM; MAF; MINOR ALLELE FREQUENCY; PDCD-1; PROGRAMMED CELL-DEATH 1; PROTEIN TYROSINE PHOSPHATASE NONRECEPTOR 22; PTPN2; REACTIVE OXYGEN SPECIES; ROS; SERINE/THREONINE PROTEIN KINASE 17A; SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; SINGLE NUCLEOTIDE POLYMORPHISMS; SLE; SNP; STAT4; STK17A; SYSTEMIC LUPUS ERYTHEMATOSUS; ULTRA VIOLET; UV; X-RAY REPAIR CROSS COMPLEMENTING GROUP 1; X-RAY REPAIR CROSS COMPLEMENTING GROUP 3; X-RAY REPAIR CROSS COMPLEMENTING GROUP 4; XRCC1; XRCC3; XRCC4;

ADULT; APOPTOSIS REGULATORY PROTEINS; FEMALE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES;

EID: 84881552641     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.074     Document Type: Review

References (32)

1. Alonso-Perez E., et al. Association of systemic lupus erythematosus clinical features with European population genetic substructure. PLoS One 2011, 12:e29033.
2. Ashurst J.L., et al. The Vertebrate Genome Annotation (Vega) database. Nucleic Acids Res. 2005, 33:D459-D465.
3. Bassi C., et al. Efficiency of the DNA repair and polymorphisms of the XRCC1, XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus. Lupus 2008, 11:988-995.
4. +/calmodulin-dependent, cytoskeletal-associated protein kinase, with cell death-inducing functions that depend on its catalytic activity. EMBO J. 1997, 5:998-1008.
5. Ding Q., et al. Autophosphorylation of the catalytic subunit of the DNA-dependent protein kinase is required for efficient end processing during DNA double-strand break repair. Mol. Cell. Biol. 2003, 16:5836-5848.
6. González J.R., et al. SNPassoc: an R package to perform whole genome association studies. Bioinformatics 2007, 5:644-645.
7. Hochberg M.C. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997, 9:1725.
8. Isenberg D.A., et al. Long-term follow-up of autoantibody profiles in black female lupus patients and clinical comparison with Caucasian and Asian patients. Br. J. Rheumatol. 1997, 2:229-233.
9. Järvinen T.M., et al. Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus. PLoS One 2010, 12:e14212.
10. Kyogoku C., et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am. J. Hum. Genet. 2004, 3:504-507.
11. Lee K.J., et al. Identification of human autoantibodies to the DNA ligase IV/XRCC4 complex and mapping of an autoimmune epitope to a potential regulatory region. J. Immunol. 2002, 6:3413-3421.
12. Lee Y.H., Harley J.B., Nath S.K. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum. Genet. 2005, 5:361-367.
13. Lin Y.J., et al. Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population. Lupus 2009, 14:1246-1251.
14. Lira E., et al. Lúpus Eritematoso Sistêmico (LES): Perfil Clínico-Laboratorial dos Pacientes do Hospital Universitário Onofre Lopes (UFRN-Natal/Brasil) e Índice de Dano nos Pacientes com Diagnóstico Recente. Rev. Bras. Reumatol. 2005, 84:339-342.
15. Mao P., et al. Serine/threonine kinase 17A is a novel p53 target gene and modulator of cisplatin toxicity and reactive oxygen species in testicular cancer cells. J. Biol. Chem. 2011, 22:19381-19391.
16. Ohnishi T., Mori E., Takahashi A. DNA double-strand breaks: their production, recognition, and repair in eukaryotes. Mutat. Res. 2009, 1-2:8-12.
17. Pons-Estel G.J., et al. Understanding the epidemiology and progression of systemic lupus erythematosus. Semin. Arthritis Rheum. 2010, 4:257-268.
18. Remmers E.F., et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N. Engl. J. Med. 2007, 10:977-986.
19. Sambrook J., Fritsch E.F., Maniatis T. Molecular cloning: a laboratory manual 1989, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y. 2nd ed.
20. Sandrin-Garcia P., et al. Shared and unique gene expression in systemic lupus erythematosus depending on disease activity. Ann. N. Y. Acad. Sci. 2009, 1173:493-500.
21. Sanjo H., Kawai T., Akira S. DRAKs, novel serine/threonine kinases related to death-associated protein kinase that trigger apoptosis. J. Biol. Chem. 1998, 44:29066-29071.
22. Sauma M.F.L.C., Nunes N.A.C., Lopes L.F.M. Estudo retrospectivo das manifestações clínicas e laboratoriais de 104 pacientes com lúpus eritematoso sistêmico (LES), em Belém, PA, Brasil (1990-1999). Rev. Bras. Reumatol. 2004, 44:192-197.
23. Sigurdsson S., et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am. J. Hum. Genet. 2005, 3:528-537.
24. Takeda Y., Dynan W.S. Autoantibodies against DNA double-strand break repair protein. Front. Biosci. 2001, 6:1412-1422.
25. Tsokos G.C. Systemic lupus erythematosus. N. Engl. J. Med. 2011, 22:2110-2121.
26. Vargas A.E., et al. Frequency of CCR5 {increment}32 in Brazilian populations. Braz. J. Med. Biol. Res. 2006, 5:321-325.
27. Veit T.D., et al. Association of the HLA-G 14bp polymorphism with systemic lupus erythematosus. Lupus 2009, 5:424-430.
28. Wakeland E.K., et al. Delineating the genetic basis of systemic lupus erythematosus. Immunity 2001, 3:397-408.
29. Wang S.C., et al. Programmed death-1 gene polymorphisms in patients with systemic lupus erythematosus in Taiwan. J. Clin. Immunol. 2006, 6:506-511.
30. Warchoł T., et al. XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. DNA Cell Biol. 2012, 1:50-56.
31. Wei X., et al. Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat. Genet. 2011, 5:442-446.
32. Yang W., et al. Proteasome inhibition induces both pro- and anti-cell death pathways in prostate cancer cells. Cancer Lett. 2006, 2:217-227.