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A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.

Abstract：

:Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United States. The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 families containing 301 affected sibling pairs with RA. A genome screen for allele sharing was performed, using 379 microsatellite markers. A nonparametric analysis using SIBPAL confirmed linkage of the HLA locus to RA (P < .00005), with lambdaHLA = 1.79. However, the analysis also revealed a number of non-HLA loci on chromosomes 1 (D1S235), 4 (D4S1647), 12 (D12S373), 16 (D16S403), and 17 (D17S1301), with evidence for linkage at a significance level of P<.005. Analysis of X-linked markers using the MLOD method from ASPEX also suggests linkage to the telomeric marker DXS6807. Stratifying the families into white or seropositive subgroups revealed some additional markers that showed improvement in significance over the full data set. Several of the regions that showed evidence for nominal significance (P < .05) in our data set had previously been implicated in RA (D16S516 and D17S1301) or in other diseases of an autoimmune nature, including systemic lupus erythematosus (D1S235), inflammatory bowel disease (D4S1647, D5S1462, and D16S516), multiple sclerosis (D12S1052), and ankylosing spondylitis (D16S516). Therefore, genes in the HLA complex play a major role in RA susceptibility, but several other regions also contribute significantly to overall genetic risk.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jawaheer D,Seldin MF,Amos CI,Chen WV,Shigeta R,Monteiro J,Kern M,Criswell LA,Albani S,Nelson JL,Clegg DO,Pope R,Schroeder HW Jr,Bridges SL Jr,Pisetsky DS,Ward R,Kastner DL,Wilder RL,Pincus T,Callahan LF,Flemming D

doi

10.1086/319518

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

927-36

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61420-7

journal_volume

68

pub_type

杂志文章

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