Genome-wide association analysis reveals 12q13.3–q14.1 as new risk locus for sarcoidosis

Hofmann, Sylvia; Fischer, Annegret; Nothnagel, Michael; Jacobs, Gunnar; Schmid, Benjamin; Wittig, Michael; Franke, André; Gaede, Karoline I.; Schürmann, Manfred; Petřek, Martin; Mrázek, František; Pabst, Stefan; Grohé, Christian; Grünewald, Johan; Ronninger, Marcus; Eklúnd, Anders; Rosenstiel, Philip; Höhne, Kerstin; Zissel, Gernot; Müller–Quernheim, Joachim; Schreiber, Stefan

doi:10.1183/09031936.00033812

Cited by 45 publications

(26 citation statements)

References 70 publications

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“…An independent susceptibility locus was also identified at 12q13.3-q14.1 with the Osteosarcoma amplified 9 (OS9) representing the most likely candidate risk factor. This association has been validated in an independent German population and replicated by a meta-analysis of three independent cohorts of sarcoidosis patients from Germany, Czech Republic and Sweden 74. Data analysis stratified by disease course revealed a stronger association of the lead SNP rs1050045 with acute sarcoidosis.…”

Section: Scanning the Genomementioning

confidence: 62%

Recent advances in the genetics of sarcoidosis

Spagnolo

Grünewald

2013

J Med Genet

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Sarcoidosis is a heterogeneous inflammatory disorder of unknown origin that may affect virtually any organ, although intrathoracic engagement is almost universal. Sarcoidosis may present rather dramatically as an acute disease, which usually resolves either spontaneously or with treatment, while other patients have an insidious onset and a chronic/progressive disease course. The different clinical phenotypes have led to the suggestion that sarcoidosis may consist of several separate entities. Yet, the characteristic immune response eventually leading to granuloma formation indicates that a number of features are common to all subgroups of the disease. Through a classical candidate gene approach, several genes of importance for sarcoidosis have been identified, and in some cases such gene variants associate with distinct clinical phenotypes. More recently, another approach to the search for sarcoidosis-associated genes has been applied, that is, through genome-wide association studies (GWAS). GWAS have led to the identification of a number of new genetic associations, although several of them need to be validated. Conversely, some of the previously identified human leucocyte antigen (HLA) associations with sarcoidosis have already been replicated in different cohorts and found to be quite strong, particularly in specific patient subgroups. In highly specialised centres such HLA associations already represent a useful aid in clinic practice for improving patient management. For the future, there is an urgent need for a better understanding, in particular, of gene-gene as well as gene-environmental interactions, both likely to be of importance for developing sarcoidosis.

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Section: Scanning the Genomementioning

confidence: 62%

Recent advances in the genetics of sarcoidosis

Spagnolo

Grünewald

2013

J Med Genet

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“…17 Misfolding and aggregation of serum amyloid A (SAA) might play an important role in sarcoidosis. 17 Misfolding and aggregation of serum amyloid A (SAA) might play an important role in sarcoidosis.…”

Section: Discussionmentioning

confidence: 99%

mRNA expression profile of bronchoalveolar lavage fluid cells from patients with idiopathic pulmonary fibrosis and sarcoidosis

Paplińska-Goryca

Goryca

Misiukiewicz-Stępień

et al. 2019

Eur J Clin Investigation

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“…Autoantigens may derive from misfolded proteins that are insufficiently cleared. It could be demonstrated that single-nucleotide polymorphisms in the OS9 [21] and RAB23 [22] genes are associated with an increased risk of sarcoidosis. Both genes are assumed to be involved in the regulation of the degradation of misfolded proteins or the generation of autophagosomes.…”

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confidence: 99%