Genetic Characterization and Susceptibility for Sarcoidosis in Japanese Patients: Risk Factors of<i>BTNL2</i>Gene Polymorphisms and HLA Class II Alleles

Suzuki, Hitomi; Ôta, Masao; Meguro, Akira; Katsuyama, Yoshihiko; Kawagoe, Tatukata; Ishihara, Mami; Asukata, Yuri; Takeuchi, Masaki; Ito, Norihiko; Shibuya, Etsuko; Nomura, Eiichi; Uemoto, Riyo; Nishide, Tadayuki; Namba, Kenichi; Kitaichi, Nobuyoshi; Morimoto, Shinichiro; Kaburaki, Toshikatsu; Ando, Yumiko; Takenaka, Shinobu; Nakamura, Jutaro; Saeki, Kozou; Ohno, Shigeaki; Inoko, Hidetoshi; Mizuki, Nobuhisa

doi:10.1167/iovs.12-10491

Cited by 43 publications

(32 citation statements)

References 42 publications

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“…Secondly, ancestry data relied on the ancestors’ birth countries and several patients had ancestors from distinct continents. However, BTNL2 polymorphism was shown linked to sarcoidosis regardless of ethnicity in Caucasian, Afro-American, and Japanese patients [37]. Lastly, we did not use the clinical outcome status (COS) of the WASOG Task Force [7] because the COS became available four years after the start of the present study.…”

Section: Discussionmentioning

confidence: 99%

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Pachéco¹,

Calender²,

Israël‐Biet³

et al. 2016

Orphanet J Rare Dis

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BackgroundThe occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.ResultsThe study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 140 families. The logistic multivariate model showed that a young age at diagnosis and the combination of lung and skin involvement at diagnosis may distinguish sporadic from familial sarcoidosis (p = 0.016 and p = 0.041). We observed also that Sarcoid Clinical Activity Classification (SCAC) profiles were significantly different between familial and sporadic cases (p = 0.0497).Variant rs2076530 was more frequent in patients than in controls (OR = 2.02; 95% CI: [1.32–3.09]) but showed no difference between sporadic and familial cases and no difference according to the clinical phenotype or the outcome.ConclusionDespite a significant difference in BTNL2 polymorphism between sarcoid patients and controls, there was no such difference between familial and sporadic sarcoidosis cases and no correlation between BTNL2 polymorphism and disease severity or outcome. Thus, BTNL2 difference cannot be considered as a key marker for disease classification or patient management.

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Section: Discussionmentioning

confidence: 99%

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Pachéco¹,

Calender²,

Israël‐Biet³

et al. 2016

Orphanet J Rare Dis

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“…In contrast to Rybicki et al, a genome-wide association study conducted in African-Americans showed that the A allele was associated with higher risk of sarcoidosis (8,19). Suzuki et al performed a study in order to assess whether the BTNL2 association was independently present in Japanese patients with sarcoidosis (20). The BTNL2 rs2076530 A allele was associated with an increased risk of sarcoidosis (OR = 1.84) in their study, but the OR was lower than in other ethnic groups.…”

Section: Discussionmentioning

confidence: 98%

Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?

Özdemir

Saydam²,

Kurt³

et al. 2014

Turk J Med Sci

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“…In mice, it was shown that BTNL2 controls mucosal inflammation by promoting FOXP3 expression and thereby the development of regulatory T cells 34 . The genetic association of the BTNL2 variant with sarcoidosis has been confirmed in various populations, including African Americans and Japanese 17, 35-41 . Most recently, the association was confirmed in a Greek population of 146 sarcoidosis patients and 90 controls 42 .…”

Section: Introductionmentioning

confidence: 89%

Granuloma genes in sarcoidosis

Fischer

Rybicki

2015

Current Opinion in Pulmonary Medicine

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Purpose of review Non-necrotizing granulomas in the affected organ are the hallmark of sarcoidosis. This review summarizes most recent genetic findings in sarcoidosis with a focus on genes that might influence granuloma formation or resolution. Specific results in multiple ethnic groups and certain clinical subphenotypes, such as extra-pulmonary organ involvement, are discussed. Recent findings Associations of genetic variants in antigen-presenting molecules (HLA-DRB1) were shown to confer risk to sarcoidosis and certain disease phenotypes in populations of different ethnic origin. Specific DRB1 alleles, such as *0301 and *0302, appear to confer protection against chronic disease, but in an ethnic-specific manner illustrating the extensive genetic heterogeneity and complexity at this locus. Mechanistic studies of putative sarcoid antigens lend further credence to a role of HLA-DRB1 in disease pathogenesis. With relevance to granuloma formation, genes involved in apoptotic processes and immune cell activation were further confirmed (ANXA11 and BTNL2) in multiple ethnicities; others were newly identified (XAF1). Linking mechanism to clinical application, a TNF variant was shown to correlate with anti-TNF response in sarcoidosis patients. Summary The investigation of known and novel risk variants for sarcoidosis and specific clinical phenotypes in various ethnicities highlights the genetic complexity of the disease. Detailed subanalysis of disease phenotypes revealed the potential for prediction of extra-pulmonary organ involvement and therapy response based on the patient's genotype.

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Genetic Characterization and Susceptibility for Sarcoidosis in Japanese Patients: Risk Factors ofBTNL2Gene Polymorphisms and HLA Class II Alleles

Cited by 43 publications

References 42 publications

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?

Granuloma genes in sarcoidosis

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