Recent findings on genetics of systemic autoimmune diseases

被引：68
作者：
Delgado-Vega, Angelica [1 ]
Sanchez, Elena
Lofgren, Sara [1 ]
Castillejo-Lopez, Casimiro [1 ]
Alarcon-Riquelme, Marta E. [1 ,2 ,3 ]
机构：
[1] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, S-75185 Uppsala, Sweden
[2] Oklahoma Med Res Fdn, Arthrit & Immunol Program, Oklahoma City, OK 73104 USA
[3] Univ Granada, Ctr Genom & Oncol Res Pfizer, Granada 18007, Spain
来源：
CURRENT OPINION IN IMMUNOLOGY | 2010年 / 22卷 / 06期
基金：
瑞典研究理事会;
关键词：
GENOME-WIDE ASSOCIATION; RHEUMATOID-ARTHRITIS; LUPUS-ERYTHEMATOSUS; SUSCEPTIBILITY VARIANTS; FUNCTIONAL POLYMORPHISM; RISK LOCUS; REGION; SCLEROSIS; REPLICATION; TNFSF4;
D O I：
10.1016/j.coi.2010.09.002
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
Association studies of over 1 million SNPs capturing most of the human genome common variation became possible thanks to the information provided by the HapMap International project and the development of high-throughput genotyping technologies at accessible prices. Genome-wide scans analyzing thousands of individuals have now identified most if not all of the major genes involved in susceptibility for several systemic autoimmune diseases. In particular, results for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) are reviewed here. While most genes are shared between diseases, few seem to be unique reflecting that we still are long before knowing all genes, their interactions with other genes and the environment and their impact on biological functions.
引用
收藏
页码：698 / 705
页数：8
相关论文
共 49 条
  • [41] BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
    Rueda, B.
    Gourh, P.
    Broen, J.
    Agarwal, S. K.
    Simeon, C.
    Ortego-Centeno, N.
    Vonk, M. C.
    Coenen, M.
    Riemekasten, G.
    Hunzelmann, N.
    Hesselstrand, R.
    Tan, F. K.
    Reveille, J. D.
    Assassi, S.
    Garcia-Hernandez, F. J.
    Carreira, P.
    Camps, M.
    Fernandez-Nebro, A.
    Garcia de la Pena, P.
    Nearney, T.
    Hilda, D.
    Gonzalez-Gay, M. A.
    Airo, P.
    Beretta, L.
    Scorza, R.
    Radstake, T. R. D. J.
    Mayes, M. D.
    Arnett, F. C.
    Martin, J.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2010, 69 (04) : 700 - 705
  • [42] A large multicentre analysis of CTGF-945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype
    Rueda, B.
    Simeon, C.
    Hesselstrand, R.
    Herrick, A.
    Worthington, J.
    Ortego-Centeno, N.
    Riemekasten, G.
    Fonollosa, V.
    Vonk, M. C.
    van den Hoogen, F. H. J.
    Sanchez-Roman, J.
    Aguirre-Zamorano, M. A.
    Garcia-Portales, R.
    Pros, A.
    Camps, M. T.
    Gonzalez-Gay, M. A.
    Gonzalez-Escribano, M. F.
    Coenen, M. J.
    Lambert, N.
    Nelson, J. L.
    Radstake, T. R. D. J.
    Martin, J.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2009, 68 (10) : 1618 - 1620
  • [43] Common Variants within MECP2 Confer Risk of Systemic Lupus Erythematosus
    Sawalha, Amr H.
    Webb, Ryan
    Han, Shizhong
    Kelly, Jennifer A.
    Kaufman, Kenneth M.
    Kimberly, Robert P.
    Alarcon-Riquelme, Marta E.
    James, Judith A.
    Vyse, Timothy J.
    Gilkeson, Gary S.
    Choi, Chan-Bum
    Scofield, R. Hal
    Bae, Sang-Cheol
    Nath, Swapan K.
    Harley, John B.
    [J]. PLOS ONE, 2008, 3 (03):
  • [44] Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
    Stahl, Eli A.
    Raychaudhuri, Soumya
    Remmers, Elaine F.
    Xie, Gang
    Eyre, Stephen
    Thomson, Brian P.
    Li, Yonghong
    Kurreeman, Fina A. S.
    Zhernakova, Alexandra
    Hinks, Anne
    Guiducci, Candace
    Chen, Robert
    Alfredsson, Lars
    Amos, Christopher I.
    Ardlie, Kristin G.
    Barton, Anne
    Bowes, John
    Brouwer, Elisabeth
    Burtt, Noel P.
    Catanese, Joseph J.
    Coblyn, Jonathan
    Coenen, Marieke J. H.
    Costenbader, Karen H.
    Criswell, Lindsey A.
    Crusius, J. Bart A.
    Cui, Jing
    de Bakker, Paul I. W.
    De Jager, Philip L.
    Ding, Bo
    Emery, Paul
    Flynn, Edward
    Harrison, Pille
    Hocking, Lynne J.
    Huizinga, Tom W. J.
    Kastner, Daniel L.
    Ke, Xiayi
    Lee, Annette T.
    Liu, Xiangdong
    Martin, Paul
    Morgan, Ann W.
    Padyukov, Leonid
    Posthumus, Marcel D.
    Radstake, Timothy R. D. J.
    Reid, David M.
    Seielstad, Mark
    Seldin, Michael F.
    Shadick, Nancy A.
    Steer, Sophia
    Tak, Paul P.
    Thomson, Wendy
    [J]. NATURE GENETICS, 2010, 42 (06) : 508 - U56
  • [45] Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
    Surolia, Ira
    Pirnie, Stephan P.
    Chellappa, Vasant
    Taylor, Kendra N.
    Cariappa, Annaiah
    Moya, Jesse
    Liu, Haoyuan
    Bell, Daphne W.
    Driscoll, David R.
    Diederichs, Sven
    Haider, Khaleda
    Netravali, Ilka
    Le, Sheila
    Elia, Roberto
    Dow, Ethan
    Lee, Annette
    Freudenberg, Jan
    De Jager, Philip L.
    Chretien, Yves
    Varki, Ajit
    MacDonald, Marcy E.
    Gillis, Tammy
    Behrens, Timothy W.
    Bloch, Donald
    Collier, Deborah
    Korzenik, Joshua
    Podolsky, Daniel K.
    Hafler, David
    Murali, Mandakolathur
    Sands, Bruce
    Stone, John H.
    Gregersen, Peter K.
    Pillai, Shiv
    [J]. NATURE, 2010, 466 (7303) : 243 - U118
  • [46] Quantitative Heritability of Anti-Citrullinated Protein Antibody-Positive and Anti-Citrullinated Protein Antibody-Negative Rheumatoid Arthritis
    van der Woude, Diane
    Houwing-Duistermaat, Jeanine J.
    Toes, Rene E. M.
    Huizinga, Tom W. J.
    Thomson, Wendy
    Worthington, Jane
    van der Helm-van Mil, Annette H. M.
    de Vries, Rene R. P.
    [J]. ARTHRITIS AND RHEUMATISM, 2009, 60 (04): : 916 - 923
  • [47] Current topics in human SLE genetics
    Wong, Maida
    Tsao, Betty P.
    [J]. SPRINGER SEMINARS IN IMMUNOPATHOLOGY, 2006, 28 (02): : 97 - 107
  • [48] Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus
    Yang, Wanling
    Shen, Nan
    Ye, Dong-Qing
    Liu, Qiji
    Zhang, Yan
    Qian, Xiao-Xia
    Hirankarn, Nattiya
    Ying, Dingge
    Pan, Hai-Feng
    Mok, Chi Chiu
    Chan, Tak Mao
    Wong, Raymond Woon Sing
    Lee, Ka Wing
    Mok, Mo Yin
    Wong, Sik Nin
    Leung, Alexander Moon Ho
    Li, Xiang-Pei
    Avihingsanon, Yingyos
    Wong, Chun-Ming
    Lee, Tsz Leung
    Ho, Marco Hok Kung
    Lee, Pamela Pui Wah
    Chang, Yuk Kwan
    Li, Philip H.
    Li, Ruo-Jie
    Zhang, Lu
    Wong, Wilfred Hing Sang
    Ng, Irene Oi Lin
    Lau, Chak Sing
    Sham, Pak Chung
    Lau, Yu Lung
    [J]. PLOS GENETICS, 2010, 6 (02):
  • [49] HLA-DPB1 and DPB2 Are Genetic Loci for Systemic Sclerosis A Genome-Wide Association Study in Koreans With Replication in North Americans
    Zhou, Xiaodong
    Lee, Jong Eun
    Arnett, Frank C.
    Xiong, Momiao
    Park, Min Young
    Yoo, Yeon Kyeong
    Shin, Eun Soon
    Reveille, John D.
    Mayes, Maureen D.
    Kim, Jin Hyun
    Song, Ran
    Choi, Ji Yong
    Park, Ji Ah
    Lee, Yun Jong
    Lee, Eun Young
    Song, Yeong Wook
    Lee, Eun Bong
    [J]. ARTHRITIS AND RHEUMATISM, 2009, 60 (12): : 3807 - 3814
12345