Distribution of LILRA3 (ILT6/LIR4) deletion in psoriatic patients and healthy controls

Wiśniewski, Andrzej; Luszczek, Wioleta; Mańczak, Maria; Jasek, Monika; Kubicka, Wioletta; Cisło, M; Kuśnierczyk, Piotr

doi:10.1016/s0198-8859(03)00025-9

Cited by 8 publications

(6 citation statements)

References 22 publications

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“…Polish (Wisniewski et al 2003) 108 14 German (Koch et al 2005) 607 18 Japanese (this study) 119 71 heterozygous for the 6.7-kb LILRA3 deletion and the allele with the splice acceptor mutation yielded three products (Fig. 3a).…”

Section: Identification Of Alternatively Spliced Isoforms Of Lilra3mentioning

confidence: 64%

Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection

et al. 2006

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The leukocyte immunoglobulin-like receptor (LILR) family consists of 13 loci, and a number of variations have been identified in these genes. Some polymorphisms of the LILR genes are reported to be associated with susceptibility to diseases such as rheumatoid arthritis and multiple sclerosis. LILRA3, one of the LILR genes, exhibits a presence or absence variation due to a 6.7-kb deletion in various populations. In this study, variation screening of the LILRA3 gene revealed high allele frequency of the 6.7-kb LILRA3 deletion (71%) in Japanese, in contrast to the frequency reported for the other populations. In addition, we identified a splice acceptor mutation in intron 1 with allele frequency of 19%, resulting in three alternatively spliced isoforms. Surprisingly, all of these isoforms were found to contain premature termination codons (PTCs) in the exon 3. Taken together, approximately 80% of Japanese lack functional LILRA3 alleles. The maximum likelihood coalescent analysis suggested that two major lineages, functional alleles and PTC-containing alleles, have been maintained for 2.75 million years in humans. These results prompted us to hypothesize that balancing selection had maintained both the functional and non-functional alleles at the LILRA3 locus. This hypothesis is consistent with the observation that the 6.7-kb LILRA3 deletion is detected worldwide in the presence of functional LILRA3 alleles.

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Section: Identification Of Alternatively Spliced Isoforms Of Lilra3mentioning

confidence: 64%

Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection

et al. 2006

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“…High frequency of defective KIR2DS4 gene suggests a function [in contrast to putative, similarly soluble product of KIR3DP1 * 004 gene which is rare, as already mentioned above (Gomez‐Lozano et al ., 2005)]. A LILRA3 gene located in LILR (ILT) region adjacent to the KIR region on chromosome 19q13.4 (Wilson et al ., 2000) potentially encodes similarly soluble protein, and is very frequent in Polish (Wiśniewski et al ., 2003), in British (Torkar et al ., 2000; Moodie et al ., 2002) and in German (Koch et al ., 2005) Caucasoids. A minority (< 5%) of individuals in these populations are homozygous LILRA3 deletants and cannot therefore express this soluble molecule.…”

Section: Resultsmentioning

confidence: 99%

“…However, in a very limited panel of diseases with immunological component where they were tested, no statistically significant associations with KIR2DS4 * 003/005/006 alleles (Łuszczek et al. , 2004) or LILRA3 deletion (Moodie et al ., 2002; Wiśniewski et al ., 2003) were found, except for multiple sclerosis recently found associated with deletion of LILRA3 (Koch et al ., 2005). In contrast, several other KIR genes were found to be associated with disease (Parham, 2005; Rajagopalan & Long, 2005).…”

Section: Resultsmentioning

confidence: 99%

Inhibitory and activatory KIR gene frequencies in the Polish population

Luszczek

Majorczyk

Nowak

et al. 2006

Int J Immunogenetics

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Killer cell immunoglobulin-like receptors (KIRs) present on natural killer cells and minor subpopulations of T cells recognize class I human leukocyte antigen (HLA) molecules on the surface of target cells. Human individuals differ by the presence or absence of some KIR genes on their chromosomes (haplotypic polymorphism). As KIRs (especially two-immunoglobulin-domain-like containing, or KIR2D, molecules) are important for the outcome of tissue (particularly for haematopoietic stem cell) transplantation and possibly for pregnancy, the knowledge of KIR gene distribution in a given human population is of practical value. Therefore, we tested 175 healthy individuals from Poland for the presence or absence of these KIR genes which show haplotypic polymorphism and are expressed. Results were compared with those published for other human populations, showing close relations with other Caucasoids.

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“…ILTs are encoded by multiple genes with many polymorphisms (22,36,37), some of which may affect individual susceptibility to bacteria infection. Interestingly, several recent reports suggest that ILT polymorphisms are associated with some autoimmune diseases including rheumatoid arthritis (42)(43)(44). Thus, alteration of immune homeostasis by disruption of one member of an ILT pair may contribute to an increased risk for autoimmune disease.…”

Section: Discussionmentioning

confidence: 99%

Paired Ig-Like Receptors Bind to Bacteria and Shape TLR-Mediated Cytokine Production

Nakayama

Underhill

Petersen

et al. 2007

The Journal of Immunology

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The innate immune system uses a wide variety of pattern recognition receptors including TLRs, scavenger receptors, and lectins to identify potential pathogens. A carefully regulated balance between activation and inhibition must be kept to avoid detrimental and inappropriate inflammatory responses. In this study, we identify murine-paired Ig-like receptor (PIR)-B, and its human orthologs Ig-like transcript 2 and Ig-like transcript 5 as novel receptors for Staphylococcus aureus. PIR-B contains four ITIM motifs and is thought to be an inhibitory receptor. Expression of these receptors enables NIH3T3 cells to bind S. aureus. In mouse bone marrow-derived macrophages, masking of PIR-B by anti-PIR mAb or genetic deletion of PIR-B shows significantly impaired recognition of S. aureus and enhanced TLR-mediated inflammatory responses to the bacteria. These data suggest a novel mechanism for innate immune regulation by paired Ig-like receptor family members.

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Distribution of LILRA3 (ILT6/LIR4) deletion in psoriatic patients and healthy controls

Cited by 8 publications

References 22 publications

Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection

Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection

Inhibitory and activatory KIR gene frequencies in the Polish population

Paired Ig-Like Receptors Bind to Bacteria and Shape TLR-Mediated Cytokine Production

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