High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

doi:10.1164/rccm.201507-1372OC

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Article

High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

American journal of respiratory and critical care medicine - 1 May 2016

Rivera Natalia V, Ronninger Marcus, Shchetynsky Klementy, Franke Andre, Nöthen Markus M, Müller-Quernheim Joachim, Schreiber Stefan, Adrianto Indra, Karakaya Bekir, van Moorsel Coline H M, Navratilova Zdenka, Kolek Vitezslav, Rybicki Benjamin A, Iannuzzi Michael C, Petrek Martin, Grutters Jan C, Montgomery Courtney, Fischer Annegret, Eklund Anders, Padyukov Leonid, Grunewald Johan

Abstract excerpt

RATIONALE: Sarcoidosis is a multisystem disease of unknown cause. Löfgren's syndrome (LS) is a characteristic subgroup of sarcoidosis that is associated with a good prognosis in sarcoidosis. However, little is known about its genetic architecture or its broader phenotype, non-LS sarcoidosis. OBJECTIVES: To address the genetic architecture of sarcoidosis phenotypes, LS and non-LS. METHODS: An association study in...

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PMID: 26651848
DOI: 10.1164/rccm.201507-1372OC
PMCID: PMC4872654

Genes

ADCY3
CSMD1
MCPH1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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