Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus

被引：149

作者：

Graham, RR

Ortmann, WA

Langefeld, CD

Jawaheer, D

Selby, SA

Rodine, PR

Baechler, EC

Rohlf, KE

Shark, KB

Espe, KJ

Green, LE

Nair, RP

Stuart, PE

Elder, JT

King, RA

Moser, KL

Gaffney, PM

Bugawan, TL

Erlich, HA

Rich, SS

Gregersen, PK

Behrens, TW

机构：

[1] Univ Minnesota, Sch Med, Dept Med, Div Rheumat & Autoimmune Dis, Minneapolis, MN 55455 USA

[2] Wake Forest Univ, Sch Med, Dept Publ Hlth Sci, Winston Salem, NC 27109 USA

[3] N Shore Univ Hosp, Div Biol & Human Genet, Manhasset, NY USA

[4] Univ Michigan, Sch Med, Dept Dermatol, Ann Arbor, MI USA

[5] Roche Mol Syst, Dept Human Genet, Alameda, CA USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 03期

关键词：

D O I：

10.1086/342290

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Human leukocyte antigen (HLA) class I and class II alleles are implicated as genetic risk factors for many autoimmune diseases. However, the role of the HLA loci in human systemic lupus erythematosus (SLE) remains unclear. Using a dense map of polymorphic microsatellites across the HLA region in a large collection of families with SLE, we identified three distinct haplotypes that encompassed the class II region and exhibited transmission distortion. DRB1 and DQB1 typing of founders showed that the three haplotypes contained DRB1*1501/DQB1*0602, DRB1*0801/DQB1*0402, and DRB1*0301/DQB1*0201 alleles, respectively. By visualizing ancestral recombinants, we narrowed the disease-associated haplotypes containing DRB1*1501 and DRB1*0801 to an 500-kb region. We conclude that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk factors for human SLE.

引用

页码：543 / 553

页数：11

共 36 条

[1] Complete sequence and gene map of a human major histocompatibility complex [J].

Beck, S ;

Geraghty, D ;

Inoko, H ;

Rowen, L ;

Aguado, B ;

Bahram, S ;

Campbell, RD ;

Forbes, SA ;

Guillaudeux, T ;

Hood, L ;

Horton, R ;

Janer, M ;

Jasoni, C ;

Madan, A ;

Milne, S ;

Neville, M ;

Oka, A ;

Qin, S ;

Ribas-Despuig, G ;

Rogers, J ;

Shiina, T ;

Spies, T ;

Tamiya, G ;

Tashiro, H ;

Trowsdale, J ;

Vu, Q ;

Williams, L ;

Yamazaki, M .

NATURE, 1999, 401 (6756) :921-923

[2] Induction of dendritic cell differentiation by IFN-α in systemic lupus erythematosus [J].

Blanco, P ;

Palucka, AK ;

Gill, M ;

Pascual, V ;

Banchereau, J .

SCIENCE, 2001, 294 (5546) :1540-1543

[3] AUTOANTIGENS TARGETED IN SYSTEMIC LUPUS-ERYTHEMATOSUS ARE CLUSTERED IN 2 POPULATIONS OF SURFACE-STRUCTURES ON APOPTOTIC KERATINOCYTES [J].

CASCIOLAROSEN, LA ;

ANHALT, G ;

ROSEN, A .

JOURNAL OF EXPERIMENTAL MEDICINE, 1994, 179 (04) :1317-1330

[4] Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease [J].

Dawkins, R ;

Leelayuwat, C ;

Gaudieri, S ;

Tay, G ;

Hui, J ;

Cattley, S ;

Martinez, P ;

Kulski, J .

IMMUNOLOGICAL REVIEWS, 1999, 167 :275-304

[5] THE ROLE OF SOMATIC MUTATION IN THE PATHOGENIC ANTI-DNA RESPONSE [J].

DIAMOND, B ;

KATZ, JB ;

PAUL, E ;

ARANOW, C ;

LUSTGARTEN, D ;

SCHARFF, MD .

ANNUAL REVIEW OF IMMUNOLOGY, 1992, 10 :731-757

[6] HLA-DR-TYPING, DQ-TYPING AND DP-TYPING USING PCR AMPLIFICATION AND IMMOBILIZED PROBES [J].

ERLICH, H ;

BUGAWAN, T ;

BEGOVICH, AB ;

SCHARF, S ;

GRIFFITH, R ;

SAIKI, R ;

HIGUCHI, R ;

WALSH, PS .

EUROPEAN JOURNAL OF IMMUNOGENETICS, 1991, 18 (1-2) :33-55

[7] Genome screening in human systemic lupus erythematosus: Results from a second Minnesota cohort and combined analyses of 187 sib-pair families [J].

Gaffney, PM ;

Ortmann, WA ;

Selby, SA ;

Shark, KB ;

Ockenden, TC ;

Rohlf, KE ;

Walgrave, NL ;

Boyum, WP ;

Malmgren, ML ;

Miller, ME ;

Kearns, GM ;

Messner, RP ;

King, RA ;

Rich, SS ;

Behrens, TW .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :547-556

[8] A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families [J].

Gaffney, PM ;

Kearns, GM ;

Shark, KB ;

Ortmann, WA ;

Selby, SA ;

Malmgren, ML ;

Rohlf, KE ;

Ockenden, TC ;

Messner, RP ;

King, RA ;

Rich, SS ;

Behrens, TW .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (25) :14875-14879

[9] Recent advances in the genetics of systemic lupus erythematosus [J].

Gaffney, PM ;

Moser, KL ;

Graham, RR ;

Behrens, TW .

RHEUMATIC DISEASE CLINICS OF NORTH AMERICA, 2002, 28 (01) :111-+

[10] Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus [J].

Graham, RR ;

Langefeld, CD ;

Gaffney, PM ;

Ortmann, WA ;

Selby, SA ;

Baechler, EC ;

Shark, KB ;

Ockenden, TC ;

Rohlf, KE ;

Moser, KL ;

Brown, WM ;

Gabriel, SE ;

Messner, RP ;

King, RA ;

Horak, P ;

Elder, JT ;

Stuart, PE ;

Rich, SS ;

Behrens, TW .

ARTHRITIS RESEARCH, 2001, 3 (05) :299-305

← 1 2 3 4 →