Annexin A11 (ANXA11) gene polymorphisms are associated with sarcoidosis in a Han Chinese population: A case-control study

BMJ Open

Volumn 4, Issue 7, 2014, Pages

  Feng, Xianjun ^a   Zang, Shuzhi ^a   Yang, Yanrong ^a   Zhao, Shasha ^a   Li, Yunxia ^a   Gao, Xinyuan ^a   Zhang, Ligong ^a  

^a XINXIANG MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANNEXIN; DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; ALLELE; ANNEXIN A11 GENE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAN CHINESE; HAPLOTYPE; HARDY WEINBERG DISTRIBUTION LAW; HUMAN; MAJOR CLINICAL STUDY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PHENOTYPE; POPULATION GENETIC PARAMETERS; PROMOTER REGION; SARCOIDOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THORAX RADIOGRAPHY; CHINA; EPIDEMIOLOGY; ETHNIC GROUP; ETHNOLOGY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; PREVALENCE; RETROSPECTIVE STUDY;

ALLELES; ANNEXINS; CHINA; DNA; ETHNIC GROUPS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PREVALENCE; RETROSPECTIVE STUDIES; SARCOIDOSIS;

EID: 84904601129     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2013-004466     Document Type: Article

References (23)

1. Iannuzzi MC, Rybicki BA, Teirstein AS. Sarcoidosis. N Engl J Med 2007;357:2153-65.
2. Baughman RP, Lower EE, du Bois RM. Sarcoidosis. Lancet 2003;361:1111-18. (Pubitemid 36369566)
3. Grunewald J. Review: role of genetics in susceptibility and outcome of sarcoidosis. Semin Respir Crit Care Med 2010;31:380-9.
4. Hofmann S, Franke A, Fischer A, et al. Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet 2008;40:1103-6.
5. Gerke V, Moss SE. Annexins: from structure to function. Physiol Rev 2002;82:331-71. (Pubitemid 34654456)
6. Farnaes L, Ditzel HJ. Dissecting the cellular functions of annexin XI using recombinant human annexin XI-specific autoantibodies cloned by phage display. J Biol Chem 2003;278:33120-6. (Pubitemid 37055758)
7. Tomas A, Futter C, Moss SE. Annexin 11 is required for midbody formation and completion of the terminal phase of cytokinesis. J Cell Biol 2004;165:813-22. (Pubitemid 38821972)
8. Petzmann S, Maercker C, Markert E, et al. Enhanced proliferation and decreased apoptosis in lung lavage cells of sarcoidosis patients. Sarcoidosis Vasc Diffuse Lung Dis 2006;23:190-200. (Pubitemid 47596314)
9. Dubaniewicz A, Trzonkowski P, Dubaniewicz-Wybieralska M, et al. Comparative analysis of mycobacterial heat shock proteins-induced apoptosis of peripheral blood mononuclear cells in sarcoidosis and tuberculosis. J Clin Immunol 2006;26:243-50. (Pubitemid 43901653)
10. Agostini C, Trentin L, Facco M, et al. Role of IL-15, IL-2, and their receptors in the development of T cell alveolitis in pulmonary sarcoidosis. J Immunol 1996;157:910-18. (Pubitemid 26231399)
11. Jullien D, Sieling PA, Uyemura K, et al. IL-15, an immunomodulator of T cell responses in intracellular infection. J Immunol 1997;158:800-6. (Pubitemid 127492657)
12. Muller-Quernheim J, Schurmann M, Hofmann S, et al. Genetics of sarcoidosis. Clin Chest Med 2008;29:391-414. (Pubitemid 351778209)
13. Morais A, Lima B, Peixoto M, et al. Annexin A11 gene polymorphism (R230C variant) and sarcoidosis in a Portuguese population. Tissue Antigens 2013;82:186-91.
14. Li Y, Pabst S, Kubisch C, et al. First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis. Thorax 2010;65:939-40.
15. Gabriel SB, Schaffner SF, Nguyen H, et al . The structure of haplotype blocks in the human genome. Science 2002;296:2225-9. (Pubitemid 34680308)
16. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5. (Pubitemid 40202029)
17. Curtis D, Knight J, Sham PC. Program report: GENECOUNTING support programs. Ann Hum Genet 2006;70:277-9.
18. Zhao JH, Curtis D, Sham PC. Model-free analysis and permutation tests for allelic associations. Hum Hered 2000;50:133-9.
19. Zhao JH, Lissarrague S, Essioux L, et al. GENECOUNTING: haplotype analysis with missing genotypes. Bioinformatics 2002;18:1694-5. (Pubitemid 36097739)
20. Zhao JH, Sham PC. Generic number systems and haplotype analysis. Comput Methods Programs Biomed 2003;70:1-9. (Pubitemid 35447524)
21. Mrazek F, Stahelova A, Kriegova E, et al. Functional variant ANXA11 R230C: true marker of protection and candidate disease modifier in sarcoidosis. Genes Immun 2011;12:490-4.
22. Levin AM, Iannuzzi MC, Montgomery CG, et al. Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans. Genes Immun 2013;14:13-18.
23. Tomas A, Moss SE. Calcium- and cell cycle-dependent association of annexin 11 with the nuclear envelope. J Biol Chem 2003;278:20210-16. (Pubitemid 36799218)