Polymorphisms of the Fcγ receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population

Magnusson, Veronica; Žunec, Renata; Odeberg, Jacob; Sturfelt, Gunnar; Truedsson, Lennart; Gunnarsson, Iva; Alarcón-Riquelme, ME

doi:10.1002/art.20151

Cited by 41 publications

(39 citation statements)

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“…Our FCGRIIB rs1050501 genotype result was consistent with that of Chinese (Chu et al 2004) and Swedish (Magnusson et al 2004) results. However, in a study on Chinese patients, although genotype frequencies of rs1050501 were not significantly different between SLE and NCs, allele carrier frequency of FCGRIIB 232T was also significantly increased in patients with LN (Chu et al 2004).…”

Section: Discussionsupporting

confidence: 90%

“…Several genetic association studies of FCGRIIB have been reported in different ethnic populations with SLE, including Japanese (Kyogoku et al 2002), Thais (Siriboonrit et al 2003), Chinese (Chu et al 2004;Chen et al 2006;Pan et al 2008), and Swedish (Magnusson et al 2004).…”

Section: Discussionmentioning

confidence: 99%

“…Humans have 5 lowaffinity FcγRs, termed FCGRs, encoded by FCGRIIA, FCGRIIB, FCGRIIC, FCGRIIIA, and FCGRIIIB. FCGRIIB is the only inhibitory FcγR, which contains an immunoreceptor tyrosine-based inhibitory motif (Smith and Clatworthy 2010) and is possible candidate gene for SLE (Kyogoku et al 2002;Magnusson et al 2004;Chen et al 2006). Serum concentrations of C-reactive protein (CRP) in humans are indicative of inflammation and pathological progression of an infection.…”

Section: Introductionmentioning

confidence: 99%

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<i>FcγRIIB </i>Gene Polymorphisms Are Associated with Disease Risk and Clinical Manifestations of Systemic Lupus Erythematosus in Koreans

Jeon

Kim

et al. 2015

Tohoku J. Exp. Med.

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Systemic lupus erythematosus (SLE) is chronic autoimmune disease with various autoantibodies, which are involved in tissue damage. Fc gamma receptors (Fcγ Rs) bind the constant region of the immunoglobulin G and transmit stimulatory or inhibitory signal to immune cells. The FcγR genes map to 1q23, a susceptible locus for SLE. We have screened single nucleotide polymorphisms (SNPs) in one of FcγR gene, FcγRIIB, which is the only inhibitory receptor, after considering gene map and reported SNPs. There were 3 SNPs in FcγRIIB: 10849 T>C (rs1050501) in exon 5 and 10950 T>G (rs6666965) and 11045 G>T (rs12117530) in intron 5 in Koreans. The frequency of the minor allele (T) of rs12117530 was significantly higher in SLE patients (50 patients, 20.4%) than healthy controls (17 patients, 12%, p = 0.041). Leukopenia occurred more frequently in SLE patients carrying the minor allele (T) of rs12117530 (p = 0.032). Among 5 haplotypes, the frequency of decreased complement was significantly lower in SLE patients with haplotype 1 [TTG] (p = 0.045). Nephritis, lymphopenia and anti-dsDNA antibody were significantly less frequent in SLE patients with haplotype 2 [TGG] (p = 0.046, p = 0.018, p = 0.002, respectively). The frequency of thrombocytopenia and anti-dsDNA antibody was significantly higher in SLE patients with haplotype 3 [CTG] (p < 0.001, p = 0.04, respectively). These data reveal that genetic polymorphisms within Fcγ RIIB are associated with disease susceptibility and phenotypes of SLE in Koreans. Furthermore, FcγRIIB rs12117530 polymorphism (T allele) may be an important risk factor in SLE.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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<i>FcγRIIB </i>Gene Polymorphisms Are Associated with Disease Risk and Clinical Manifestations of Systemic Lupus Erythematosus in Koreans

Jeon

Kim

et al. 2015

Tohoku J. Exp. Med.

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“…There were significant differences in the genotype distribution between patients with and without pleural effusion ( 2 ϭ 6.59, P ϭ 0.037 by 3 ϫ 2 contingency Strong association of the FCGR2B Ile187Thr polymorphism and SLE in Asian populations. Several published association studies suggest that the FCGR2B minor allele, Thr187, is a risk factor for disease in Thai, Japanese, and Chinese populations, but not in American or Swedish Caucasian or in African American populations (28,29,(32)(33)(34). This differential result does not seem to reflect different population allele frequencies, since the frequencies of the Thr187 allele in these Asian 142 (51) 105 (38) 29 (11) 142 (51) 134 (49) 389 (70) 147 (56) 87 (33) 29 (11) 147 (56) 116 (44) 381 (72) 145 (28) Oral ulcer Positive (n ϭ 112) 59 (53) 42 (38) 11 (10) 0.752 59 (53) 53 (47) 0.853 160 (71) 64 (29) 1.000 Negative (n ϭ 239)…”

Section: Clinical Characteristics Of Sle Patientsmentioning

confidence: 99%

“…This polymorphism affects receptor signaling and partitioning into lipid rafts (28,30,31), and in SLE association studies, the minor allele (Thr187) has been reported as a genetic risk factor in some, but not all, study populations. Interestingly, positive associations have been found in 3 Asian populations, but no association has been observed in American Caucasian, African American, and Swedish populations (28,29,(32)(33)(34). This segregation of genetic effect by ethnicity suggests that the genetic backgrounds in the different ethnicities may influence the pathogenesis of SLE through the interaction of different genetic risk factors with Ile/Thr187.…”

mentioning

confidence: 99%

Association of a transmembrane polymorphism of Fcγ receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients

Chen¹,

Wang²,

Chun³

et al. 2006

Arthritis & Rheumatism

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Objective. To investigate the possible association of the Fc␥ receptor IIb (Fc␥RIIb) Ile/Thr187 transmembrane domain polymorphism, which significantly affects receptor signaling, with susceptibility to systemic lupus erythematosus (SLE) in Taiwanese patients.Methods. We used matrix-assisted laser desorption ionization؊time-of-flight mass spectrometry to genotype 351 Taiwanese SLE patients and 372 age-and sex-matched healthy individuals from the same geographic area. Allele frequencies and genotype distributions were compared between the patients and controls, both as an aggregate and as stratified by sex, autoantibody profile, and clinical parameters. A combined analysis was conducted to assess the FCGR2B Thr187 allele as a common risk factor in different ethnic populations.Results. The minor Thr187 allele was significantly associated with SLE in Taiwanese Fc␥RIIb exhibits several apparent inhibitory activities in modulating the immune system, but not all the inhibitory activities are dependent on its distinct ITIM. Coengagement of Fc␥RIIb and other receptors containing an immunoreceptor tyrosine-based activation motif (ITAM) leads to tyrosine phosphorylation of the ITIM by Lyn kinase, recruitment of SH2 domain-containing inositol phosphatase (SHIP), inhibition of ITAMtriggered calcium mobilization, and arrest of cellular proliferation (3). Inhibition of calcium mobilization requires the phosphatase activity of SHIP to hydrolyze phosphatidylinositol 3,4,5-trisphosphate (PIP 3 ), and the

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Human FcR Polymorphism and Disease

Gibson

Kimberly

2014

Fc Receptors

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Fc receptors play a central role in maintaining the homeostatic balance in the immune system. Our knowledge of the structure and function of these receptors and their naturally occurring polymorphisms, including single nucleotide polymorphisms and/or copy number variations, continues to expand. Through studies of their impact on human biology and clinical phenotype, the contributions of these variants to the pathogenesis, progression, and/or treatment outcome of many diseases that involve immunoglobulin have become evident. They affect susceptibility to bacterial and viral pathogens, constitute as risk factors for IgG or IgE mediated inflammatory diseases, and impact the development of many autoimmune conditions. In this chapter, we will provide an overview of these genetic variations in classical FcγRs, FcRLs, and other Fc receptors, as well as challenges in achieving an accurate and comprehensive understanding of the FcR polymorphisms and genomic architecture.

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Polymorphisms of the Fcγ receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population

Cited by 41 publications

References 14 publications

<i>FcγRIIB </i>Gene Polymorphisms Are Associated with Disease Risk and Clinical Manifestations of Systemic Lupus Erythematosus in Koreans

<i>FcγRIIB </i>Gene Polymorphisms Are Associated with Disease Risk and Clinical Manifestations of Systemic Lupus Erythematosus in Koreans

Association of a transmembrane polymorphism of Fcγ receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients

Human FcR Polymorphism and Disease

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