A Genome-Wide Association Study implicates NR2F2 in Lymphangioleiomyomatosis Pathogenesis.
Kim W, Giannikou K, Dreier JR et al.
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Abstract
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Introduction: Lymphangioleiomyomatosis (LAM) occurs either associated with tuberous sclerosis complex (TSC) or as sporadic disease (S-LAM). Risk factors for development of S-LAM are unknown. We hypothesised that DNA sequence variants outside of TSC2/TSC1 might be associated with susceptibility for S-LAM and performed a genome-wide association study (GWAS).
426 European ancestry cases, 852 European ancestry controls
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