A Comparison of Genome-scans Performed in Multicase Families with Systemic Lupus Erythematosus from Different Population Groups

Johanneson, Bo; Steinsson, Kristján; Lindqvist, Anna-Karin; Kristjánsdóttir, Helga; Gröndal, Gerður; Sandino, Sayonara; Tjernström, Fredrik; Sturfelt, Gunnar; Granados-Arriola, Julio; Alcocer‐Varela, Jorge; Lundberg, Ingrid E.; Jonasson, Inger; Truedsson, Lennart; Svenungsson, Elisabet; Klareskog, Lars; Alarcón‐Segovia, Donato; Gyllensten, Ulf; Alarcón‐Riquelme, Marta E.

doi:10.1006/jaut.1999.0305

Cited by 24 publications

(18 citation statements)

References 15 publications

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“…Interestingly, we describe here regions suggesting linkage also detected by other groups [22][23][24]50]. It will be important to confirm all these regions in other cohorts of SLE families.…”

Section: Discussionsupporting

confidence: 77%

A Susceptibility Locus for Human Systemic Lupus Erythematosus (hSLE1) on Chromosome 2q

Lindqvist

Steinsson

Johanneson

et al. 2000

Journal of Autoimmunity

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149

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Section: Discussionsupporting

confidence: 77%

A Susceptibility Locus for Human Systemic Lupus Erythematosus (hSLE1) on Chromosome 2q

Lindqvist

Steinsson

Johanneson

et al. 2000

Journal of Autoimmunity

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179

149

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“…Differences in linkage results may also originate from false positive evidence of linkage for some loci [104]. A comparative study pinpointing the linkage results overlapping between the four studies, also including results from an additional genome-screen on Mexican family material (to be published elsewhere), has recently been performed [105]. The overlapping regions between the studies may indicate genetic factors common to the different populations [ Table 3].…”

Section: Linkage Studies Of Human Slementioning

confidence: 99%

The Genetics of Systemic Lupus Erythematosus

Lindqvist

Alarcón‐Riquelme

1999

Scand J Immunol

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Lindqvist AKB, Alarcón-Riquelme ME. The Genetics of Systemic Lupus Erythematosus. Scand J Immunol 1999;50:562-571. There is considerable evidence that the development of systemic lupus erythematosus (SLE) has a strong genetic basis. For more than 20 years, much effort has been made to understand the genetics of SLE. Association studies in humans suggest the existence of genetic effects by the alleles encoded in the HLA, deficiencies in the complement genes and the low-affinity variants of Fc␥-receptors. In mouse models of SLE at least 13 loci have been identified, including the MHC, linked to lupus-related phenotypes such as nephritis and production of autoantibodies. Recently, linkage studies have been performed in human SLE; one investigating a candidate region based on synteny to a murine susceptibility locus and four genome-wide linkage studies in various populations. Linkage was demonstrated to several chromosomal regions, some of which are syntenic to murine lupus susceptibility loci. Interestingly, many of the identified chromosomal regions co-localise with loci implicated in other autoimmune diseases.

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“…Furthermore, the evidence of linkage in these studies was found in populations of European and African derived populations. 4,5,[10][11][12][13][14] Finer localization is not possible with these studies since the sample sizes and linkage approach limit the power of resolution. Nonetheless, the studies are very informative in the sense that they consistently provide evidence for linkage to this region.…”

Section: Introductionmentioning

confidence: 99%

Association of LY9 in UK and Canadian SLE families

et al. 2008

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Systemic lupus erythematosus (SLE) is a complex disease trait of unknown aetiology. Genome-wide linkage studies in human SLE identified several linkage regions, including one at 1q23, which contains multiple susceptibility genes, including the members of the signalling lymphocyte activation molecule (SLAM) locus. In mice there is a syntenic linkage region, Sle1. The SLAM genes are functionally related cell-surface receptors, which regulate signal transduction of cells in the immune system. Family-based association study in UK and Canadian SLE families identified variants in the promoter and coding region of SLAMF7 and LY9 contributing to SLE disease susceptibility. The strongest association was from rs509749, in exon 8 of LY9 (P ¼ 0.00209). rs509749 encodes a Val/Met nonsynonymous change in amino acid 602 in the cytoplasmic domain of LY9. In the parents and affected individuals from the Canadian SLE families, the risk allele of rs509049 skews the T-cell population by increasing the number of CD8 þ memory T cells, while decreasing the proportion of CD4 þ naïve T cells and activated T cells. Since rs509749 lies within the consensus binding site for SAP/SH2D1a, which influences downstream signalling events from LY9, the mechanism for increased CD8 þ memory T cells may include differential binding SAP/SH2D1a to the cytoplasmic domain of LY9.

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A Comparison of Genome-scans Performed in Multicase Families with Systemic Lupus Erythematosus from Different Population Groups

Cited by 24 publications

References 15 publications

A Susceptibility Locus for Human Systemic Lupus Erythematosus (hSLE1) on Chromosome 2q

A Susceptibility Locus for Human Systemic Lupus Erythematosus (hSLE1) on Chromosome 2q

The Genetics of Systemic Lupus Erythematosus

Association of LY9 in UK and Canadian SLE families

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