Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population

详细信息    查看全文

• 作者：XINQIANG SONG (1) (3)
  SHICHENG GUO (1)
  YULIN CHEN (1)
  CHENGDE YANG (1)
  HENGDONG JI (2)
  FENG ZHANG (1)
  ZHENGWEN JIANG (4)
  YANGYUN MA (1)
  YUAN LI (1)
  LI JIN (1)
  HEJIAN ZOU (5) (6)
  XIAODONG ZHOU (7)
  JIUCUN WANG (1) (6)
  
• 关键词：HLA ; DQA1 gene ; copy number polymorphism ; rheumatoid arthritis
• 刊名：Journal of Genetics
• 出版年：2014
• 出版时间：April 2014
• 年：2014
• 卷：93
• 期：1
• 页码：215-218
• 全文大小：
• 参考文献：1. Britten A. C., Mijovic C. H., Barnett A. H. and Kelly M. A. 2009 Differential expression of HLA-DQ alleles in peripheral blood mononuclear cells: alleles associated with susceptibility to and protection from autoimmune type 1 diabetes. / Int. J. Immunogenet. 36, 47鈥?7. CrossRef
  2. Chai H. C., Phipps M. E., Othman I., Tan L. P. and Chua K. H. 2013 HLA variants rs9271366 and rs9275328 are associated with systemic lupus erythematosus susceptibility in Malays and Chinese. / Lupus 22, 198鈥?04.
  3. Docampo E., Rabionet R., Riveira-Munoz E., Escaramis G., Julia A., Marsal S. / et al. 2010 Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis. / Arthritis Rheum. 62, 1246鈥?251. CrossRef
  4. Estivill X. and Armengol L. 2007 Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. / PLoS Genet. 3, 1787鈥?799. CrossRef
  5. Fanciulli M., Norsworthy P. J., Petretto E., Dong R., Harper L., Kamesh L. / et al. 2007 FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. / Nat. Genet. 39, 721鈥?23. CrossRef
  6. Grayson B. L., Smith M. E., Thomas J. W., Wang L., Dexheimer P., Jeffrey J. / et al. 2010 Genome-wide analysis of copy number variation in type 1 diabetes. / PLoS One 5, e15393.
  7. Iafrate A. J., Feuk L., Rivera M. N., Listewnik M. L., Donahoe P. K., Qi Y. / et al. 2004 Detection of large-scale variation in the human genome. / Nat. Genet 36, 949鈥?51. CrossRef
  8. Imboden J. B. 2009 The immunopathogenesis of rheumatoid arthritis. / Annu. Rev. Pathol. 4, 417鈥?34. CrossRef
  9. LeishGEN Consortium; Wellcome Trust Case Control Consortium, Fakisla M., Strange A., Cordell H. J., Miller E. N. / et al. 2013 Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. / Nat. Genet. 45, 208鈥?13.
  10. Lou H., Li S., Yang Y., Kang L., Zhang X., Jin W. / et al. 2011 A map of copy number variations in Chinese populations. / PLoS One 6, e27341.
  11. MacGregor A. J., Snieder H., Rigby A. S., Koskenvuo M., Kaprio J., Aho K. and Silman A. J. 2000 Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. / Arthritis Rheum. 43, 30鈥?7. CrossRef
  12. Mamtani M., Anaya J. M., He W. and Ahuja S. K. 2010 Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases. / Genes Immun. 11, 155鈥?60. CrossRef
  13. McCarroll S. A. and Altshuler D. M. 2007 Copy-number variation and association studies of human disease. / Nat. Genet. 39, S37鈥?2. CrossRef
  14. McKinney C. and Merriman M. E., Chapman P. T., Gow P. J., Harrison A. A., Highton J. / et al. 2008 Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. / Ann. Rheum. Dis. 67, 409鈥?13. CrossRef
  15. McKinney C., Merriman T. R. 2012 Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes. / Hum. Mol. Genet. 21, 2370鈥?376. CrossRef
  16. Murray J. A., Moore S. B., Van Dyke C. T., Laho B. D., Dieskhising R. A., Zinsmeistres A. R. / et al. 2007 HLA DQ gene dosage and risk and severity of celiac disease. / Clin Gastroenterol Hepatol 5, 1406鈥?412.
  17. Plenge R. M., Seielstad M., Padyukov L., Lee A. T., Remmers E. F., Ding B. / et al. 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis鈥揳 genomewide study. / N. Engl. J. Med. 357, 1199鈥?209. CrossRef
  18. Raychaudhuri S., Thomson B. P., Remmers E. F., Eyre S., Hinks A., Guiducci C. / et al. 2009 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. / Nat. Genet. 41, 1313鈥?318. CrossRef
  19. Ruyssen-Witrand A., Constantin A., Cambon-Thomsen A. and Thomsen M. 2012 New insights into the genetics of immune responses in rheumatoid arthritis. / Tissue Antigens. 80, 105鈥?18. CrossRef
  20. Schaschl H., Aitman T. J. and Vyse T. J. 2009 Copy number variation in the human genome and its implication in autoimmunity. / Clin. Exp. Immunol. 156, 12鈥?6. CrossRef
  21. Shostakovich-Koretskaya L., Catano G., Chykarenko Z. A., He W., Gornalusse G., Mummidi S. / et al. 2009 Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. / AIDS 23, 679鈥?88.
  22. Sirota M., Schaub M. A., Batzoglou S., Robinson W. H. and Butte A. J. 2009 / Autoimmune disease classification by inverse association with SNP alleles / PLoS Genet. 5, e1000792.
  23. Swaminathan S., Kim S., Shen L., Risacher S. L., Foroud T., Pankratz N. / et al. 2011 Genomic copy number analysis in Alzheimer鈥檚 disease and mild cognitive impairment: an ADNI study. / Int. J. Alzheimers Dis. 2011, 729478. CrossRef
  24. Townson J. R., Barcellos L. F. and Nibbs R. J. 2002 Gene copy number regulates the production of the human chemokine CCL3-L1. / Eur. J. Immunol. 32, 3016鈥?026. CrossRef
  25. Wang J., Yang Y., Guo S., Chen Y., Yang C., Ji H. et al. 2013 Association between copy number variations HLA-DQA1and ankylosing spondylitis in chinese han population. / Genes Immun. 14, 500鈥?03.
  26. Yamada R. and Yamamoto K. 2007 Mechanisms of disease: genetics of rheumatoid arthritis鈥揺thnic differences in disease-associated genes. / Nat. Clin. Pract. Rheumatol. 3, 644鈥?50. CrossRef
  27. Yim S. H., Chung Y. J., Jin E. H., Shim S. C., Kim J. Y., Kim Y. S. / et al. 2011 The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. / Mol. Immunol. 48, 1338鈥?343. CrossRef
  
• 作者单位：XINQIANG SONG (1) (3)
  SHICHENG GUO (1)
  YULIN CHEN (1)
  CHENGDE YANG (1)
  HENGDONG JI (2)
  FENG ZHANG (1)
  ZHENGWEN JIANG (4)
  YANGYUN MA (1)
  YUAN LI (1)
  LI JIN (1)
  HEJIAN ZOU (5) (6)
  XIAODONG ZHOU (7)
  JIUCUN WANG (1) (6)
  
  1. State Key Laboratory of Genetic Engineering and Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 2000080, People鈥檚 Republic of China
  3. Xinyang Normal University, Henan, 464000, People鈥檚 Republic of China
  2. Division of Rheumatology, The First People鈥檚 Hospital of Taizhou, Jiangsu, 225300, People鈥檚 Republic of China
  4. Center for Genetic and Genomic Analysis, Genesky Biotechnologies Inc., Shanghai, 2000080, People鈥檚 Republic of China
  5. Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, 2000080, People鈥檚 Republic of China
  6. Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, 2000080, People鈥檚 Republic of China
  7. The University of Texas Medical School at Houston, Houston, TX, 77030, USA
  
• ISSN：0973-7731

文摘