Vitamin D Receptor Gene Polymorphism in Patients With Sarcoidosis

Guleva, Ilona; Seitzer, Ulrike

doi:10.1164/ajrccm.162.2.16223b

Cited by 8 publications

(5 citation statements)

References 7 publications

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“…In the study by NIIMI et al [27], the Bsm I B allele was overrepresented in sarcoidosis patients but GULEVA and SEITZER [41] subsequently reported a failure to replicate this finding in a German Caucasian population. In the current study population, the corresponding t allele for the Taq I polymorphism showed no preferential transmission to affected offspring.…”

Section: Discussionmentioning

confidence: 98%

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Sarcoidosis and granuloma genes: a family-based study in African-Americans

Rybicki¹,

Maliarik²,

Poisson³

et al. 2004

Eur Respir J

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The evidence for a genetic component in the aetiology of sarcoidosis includes familial aggregation, associations with genetic polymorphisms, and linkage to the major histocompatibility complex class region on chromosome 6p. Unfortunately, the majority of genetic associations with sarcoidosis have not been consistently replicated.In the present study, using a family-based study design, which controls for population stratification, the authors attempted to replicate previously reported associations between sarcoidosis and three attractive candidate genes studied primarily in casecontrol samples.In 225 nuclear families, ascertained through African Americans with a history of sarcoidosis, no evidence was found for an association between sarcoidosis susceptibility and polymorphisms in the angiotensin converting enzyme, vitamin D receptor and tumour necrosis factor-a genes. Further analyses of chronic and acute disease phenotypes failed to reveal any notable associations. Assuming an underlying inheritance model with an additive allelic effect on disease risk, the current study had y80-90% statistical power to detect a 3-fold increased risk associated with the putative risk allele of the polymorphisms under study.The present authors conclude that in African-Americans, the angiotensin converting enzyme, vitamin D receptor, and tumour necrosis factor-a genes are not significant risk factors for sarcoidosis susceptibility.

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Section: Discussionmentioning

confidence: 98%

“…Conflicting case-control study results with respect to sarcoidosis risk exist for polymorphisms in the ACE [7][8][9][10][11][12][36][37][38][39][40], VDR [27,41], and TNF-a [17][18][19][20]42] genes (table 5). Therefore, the current authors tested polymorphisms in these genes for associations with sarcoidosis in African-American families.…”

Section: Discussionmentioning

confidence: 99%

Sarcoidosis and granuloma genes: a family-based study in African-Americans

Rybicki¹,

Maliarik²,

Poisson³

et al. 2004

Eur Respir J

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“…RFLP analysis of 101 Japanese sarcoidosis patients indicated a higher occurrence of a vitamin D receptor ( VDR ) polymorphism in intron 8 than that occurred in healthy subjects. However, analysis of another VDR polymorphism in linkage disequilibrium with the intron 8 polymorphism showed no statistical significance in 85 Euro‐Caucasian sarcoidosis patients (73). The VDR gene was also not detected as a candidate gene in analysis of African‐American subjects (39).…”

Section: Candidate Genesmentioning

confidence: 91%

Advances in the genetics of sarcoidosis

et al. 2008

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Sarcoidosis is an uncommon disease of granulomatous inflammation. Genetic predisposition to sarcoidosis is indicated by observations of familial clustering, increased concordance in monozygotic twins over other siblings, and variations in susceptibility and disease presentation among different ethnic groups. Published studies on sarcoidosis have investigated a variety of genetic associations. These studies used techniques ranging from classic human lymphocyte antigen genotype correlations to genome-wide linkage scans. Results have both supported and refuted disease associations with a number of genes potentially involved in the pathogenesis of sarcoidosis. Here, we review representative studies concerning the genetics of sarcoidosis. While investigations to date have failed to identify a unifying genetic signature associated with sarcoidosis, numerous studies have identified genetic associations with disease subtypes or within specific populations. These studies suggest that genetic susceptibility to sarcoidosis is complex and polygenic in nature. Future studies will help clarify the genetics of sarcoidosis and allow for the development of diagnostic, prognostic and therapeutic technologies.

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“…Niimi and colleagues reported a VDR Bsm1 restriction site polymorphism in intron 8 to be associated with sarcoidosis [130]. Guleva and Seitzer examined a VDR Taq1 polymorphism in linkage disequilibrium with the BsmI polymorphism in 85 patients and 80 control subjects and could not confirm Niimi and colleagues' findings [131]. Rybicki and colleagues also could not confirm VDRs as candidate genes in sarcoidosis [49].…”

Section: Vitamin D Receptorsmentioning

confidence: 92%