FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1064-1069

  Yu, Hongsong ^a   Luo, Le ^a   Wu, Lili ^a   Zheng, Minming ^a   Zhang, Lijun ^a   Liu, Yunjia ^a   Li, Hua ^a   Cao, Qingfeng ^a   Kijlstra, Aize ^b   Yang, Peizeng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BD; Behcet disease; Copy number variation; FAS; VKH syndrome

Indexed keywords

CASPASE 3; CASPASE 8; FAS ANTIGEN; PROTEIN BCL 2;

ADULT; APOPTOSIS; ARTICLE; BEHCET DISEASE; CD4+ T LYMPHOCYTE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE REPLICATION; HAN CHINESE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; VOGT KOYANAGI SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; BEHCET SYNDROME; CASE CONTROL STUDY; GENE DOSAGE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; ODDS RATIO; PHENOTYPE; UVEOMENINGOENCEPHALITIC SYNDROME; YOUNG ADULT;

ADULT; ANTIGENS, CD95; APOPTOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; BEHCET SYNDROME; CASE-CONTROL STUDIES; CASPASE 3; CASPASE 8; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; ODDS RATIO; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-BCL-2; UVEOMENINGOENCEPHALITIC SYNDROME; YOUNG ADULT;

EID: 84944167127     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22829     Document Type: Article

References (44)

1. Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, et al. 2006. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 439:851-855.
2. Baris YS, Yildiz L, Senturk N, Kandemir B. 2005. Fas (CD95) and BCL2 expression in active skin lesions of Behcet's disease. J Eur Acad Dermatol Venereol 19:569-572.
3. Cantsilieris S, White SJ. 2013. Correlating multiallelic copy number polymorphisms with disease susceptibility. Hum Mutat 34:1-13.
4. Chen JY, Wang CM, Chang SW, Cheng CH, Wu YJ, Lin JC, Yang B, Ho HH, Wu J. 2014. Association of FCGR3A and FCGR3B Copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients. Arthritis Rheum 66:3113-3121.
5. Das H, Koizumi T, Sugimoto T, Chakraborty S, Ichimura T, Hasegawa K, Nishimura R. 2000. Quantitation of Fas and Fas ligand gene expression in human ovarian, cervical and endometrial carcinomas using real-time quantitative RT-PCR. Br J Cancer 82:1682-1688.
6. Fan X, Shangguan L, Li M, Li CY, Liu B. 2010. Functional polymorphisms of the FAS/FASLG genes are associated with risk of alopecia areata in a Chinese population: a case-control analysis. Br J Dermatol 163:340-344.
7. Favaloro B, Allocati N, Graziano V, Di Ilio C, De Laurenzi V. 2012. Role of apoptosis in disease. Aging (Albany, NY) 4:330-349.
8. Feuk L, Marshall CR, Wintle RF, Scherer SW. 2006. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 15:R57-R66.
9. Hollox EJ, Hoh BP. 2014. Human gene copy number variation and infectious disease. Hum Genet 133:1217-1233.
10. Hou S, Du L, Lei B, Pang CP, Zhang M, Zhuang W, Zhang M, Huang L, Gong B, Wang M, Zhang Q, Hu K, et al. 2014a. Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. Nat Genet 46:1007-1011.
11. Hou S, Qi J, Liao D, Fang J, Chen L, Kijlstra A, Yang P. 2014b. High C4 gene copy numbers protects against Vogt-Koyanagi-Harada syndrome in Chinese Han. Br J Ophthalmol 98:1733-1737.
12. Hou S, Qi J, Liao D, Zhang Q, Fang J, Zhou Y, Liu Y, Bai L, Zhang M, Kijlstra A, Yang P. 2013. Copy number variations of complement component C4 are associated with Behcet's disease but not with ankylosing spondylitis associated with acute anterior uveitis. Arthritis Rheum 65:2963-2970.
13. Hou S, Yang Z, Du L, Jiang Z, Shu Q, Chen Y, Li F, Zhou Q, Ohno S, Chen R, Kijlstra A, Rosenbaum JT, et al. 2012. Identification of a susceptibility locus in STAT4 for Behcet's disease in Han Chinese in a genome-wide association study. Arthritis Rheum 64:4104-4113.
14. International Study Group for Behcet's Disease. 1990. Criteria for diagnosis of Behcet's disease. Lancet 335:1078-1080.
15. Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C. 2009. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 93:22-26.
16. Khairallah M, Accorinti M, Muccioli C, Kahloun R, Kempen JH. 2012. Epidemiology of Behcet disease. Ocul Immunol Inflamm 20:324-335.
17. Liu B, Yang L, Huang B, Cheng M, Wang H, Li Y, Huang D, Zheng J, Li Q, Zhang X, Ji W, Zhou Y, et al. 2012. A functional copy-number variation in MAPKAPK2 predicts risk and prognosis of lung cancer. Am J Hum Genet 91:384-390.
18. McCarroll SA, Altshuler DM. 2007. Copy-number variation and association studies of human disease. Nat Genet 39:S37-S42.
19. Munoz LE, van Bavel C, Franz S, Berden J, Herrmann M, van der Vlag J. 2008. Apoptosis in the pathogenesis of systemic lupus erythematosus. Lupus 17:371-375.
20. Nagata S. 2010. Apoptosis and autoimmune diseases. Ann N Y Acad Sci 1209:10-16.
21. Read RW, Holland GN, Rao NA, Tabbara KF, Ohno S, Arellanes-Garcia L, Pivetti-Pezzi P, Tessler HH, Usui M. 2001. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am J Ophthalmol 131:647-652.
22. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Kyung Cho E, Dallaire S, et al. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
23. Robinson JI, Carr IM, Cooper DL, Rashid LH, Martin SG, Emery P, Isaacs JD, Barton A, BRAGGSS, Wilson AG, Barrett JH, Morgan AW. 2012. Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis. Hum Mutat 33:741-749.
24. Roychoudhury J, Herndon JM, Yin J, Apte RS, Ferguson TA. 2010. Targeting immune privilege to prevent pathogenic neovascularization. Invest Ophthalmol Vis Sci 51:3560-3566.
25. Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, et al. 2007. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315:848-853.
26. Sun T, Gao Y, Tan W, Ma S, Shi Y, Yao J, Guo Y, Yang M, Zhang X, Zhang Q, Zeng C, Lin D. 2007. A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. Nat Genet 39:605-613.
27. Suttorp-Schulten MS, Rothova A. 1996. The possible impact of uveitis in blindness: a literature survey. Br J Ophthalmol 80:844-848.
28. Trevino-Talavera BA, Palafox-Sanchez CA, Munoz-Valle JF, Orozco-Barocio G, Navarro-Hernandez RE, Vazquez-Del Mercado M, Garcia de la Torre I, Oregon-Romero E. 2014. FAS -670A>G promoter polymorphism is associated with soluble Fas levels in primary Sjogren's syndrome. Genet Mol Res 13:4831-4838.
29. Tse KP, Su WH, Yang ML, Cheng HY, Tsang NM, Chang KP, Hao SP, Yao Shugart Y, Chang YS. 2011. A gender-specific association of CNV at 6p21.3 with NPC susceptibility. Hum Mol Genet 20:2889-2896.
30. Wajant H. 2002. The Fas signaling pathway: more than a paradigm. Science 296:1635-1636.
31. Wakisaka S, Takeba Y, Mihara S, Takeno M, Yamamoto S, Sakane T, Suzuki N. 2002. Aberrant Fas ligand expression in lymphocytes in patients with Behcet's disease. Int Arch Allergy Immunol 129:175-180.
32. Wu Y, Zhang Z, Tao L, Chen G, Liu F, Wang T, Xue F, Chen Y, He L, Zheng J, Liu Y. 2014. A high copy number of FCGR3B is associated with Psoriasis Vulgaris in Han Chinese. Dermatology 229:70-75.
33. Yang L, Liu B, Huang B, Deng J, Li H, Yu B, Qiu F, Cheng M, Wang H, Yang R, Yang X, Lu J. 2013. A functional copy number variation in the WWOX gene is associated with lung cancer risk in Chinese. Hum Mol Genet 22:1886-1894.
34. Yang P, Fang W, Meng Q, Ren Y, Xing L, Kijlstra A. 2008. Clinical features of Chinese patients with Behcet's disease. Ophthalmology 115:312-318.
35. Yang P, Ji L, Zhou H, Huang X, Xie C, Jin H, Chen L, Kijlstra A. 2001. Disturbed expression of Fas/FasL on CD4(+) and CD8(+)T cells in Behcet's disease, Vogt-Koyanagi-Harada syndrome, and idiopathic anterior uveitis. Ocul Immunol Inflamm 9:185-191.
36. Yang P, Ren Y, Li B, Fang W, Meng Q, Kijlstra A. 2007a. Clinical characteristics of Vogt-Koyanagi-Harada syndrome in Chinese patients. Ophthalmology 114:606-614.
37. Yang P, Zhang Z, Zhou H, Li B, Huang X, Gao Y, Zhu L, Ren Y, Klooster J, Kijlstra A. 2005. Clinical patterns and characteristics of uveitis in a tertiary center for uveitis in China. Curr Eye Res 30:943-948.
38. Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride KL, et al. 2007b. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 80:1037-1054.
39. Yildir S, Sezgin M, Barlas IO, Turkoz G, Ankarali HC, Sahin G, Erdal ME. 2013. Relation of the Fas and FasL gene polymorphisms with susceptibility to and severity of rheumatoid arthritis. Rheumatol Int 33:2637-2645.
40. Yu B, Guan M, Peng Y, Shao Y, Zhang C, Yue X, Zhang J, Yang H, Zou H, Ye W, Wan J, Zhang W. 2011. Copy number variations of interleukin-17F, interleukin-21, and interleukin-22 are associated with systemic lupus erythematosus. Arthritis Rheum 63:3487-3492.
41. Yu H, Liu Y, Bai L, Kijlstra A, Yang P. 2014. Predisposition to Behcet's disease and VKH syndrome by genetic variants of miR-182. J Mol Med (Berl) 92:961-967.
42. Zhang N, Li X, Tao K, Jiang L, Ma T, Yan S, Yuan C, Moran MS, Liang F, Haffty BG, Yang Q. 2011. BCL2 (-938C >A) polymorphism is associated with breast cancer susceptibility. BMC Med Genet 12:48.
43. Zhao H, Roychoudhury J, Doggett TA, Apte RS, Ferguson TA. 2013. Age-dependent changes in FasL (CD95L) modulate macrophage function in a model of age-related macular degeneration. Invest Ophthalmol Vis Sci 54:5321-5231.
44. Zhu J, Qin C, Wang M, Yan F, Ju X, Meng X, Ding Q, Li P, Yang J, Cao Q, Zhang Z, Yin C. 2010. Functional polymorphisms in cell death pathway genes and risk of renal cell carcinoma. Mol Carcinog 49:810-817.