Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients
Posted on 2016-01-20 - 05:00
Abstract Background Systemic sclerosis (SSc)-related interstitial lung disease (ILD) has phenotypic similarities to lung involvement in idiopathic interstitial pneumonia (IIP). We aimed to assess whether genetic susceptibility loci recently identified in the large IIP genome-wide association studies (GWASs) were also risk loci for SSc overall or severity of ILD in SSc. Methods A total of 2571 SSc patients and 4500 healthy controls were investigated from the US discovery GWAS and additional US replication cohorts. Thirteen IIP-related selected single nucleotide polymorphisms (SNPs) were genotyped and analyzed for their association with SSc. Results We found an association of SSc with the SNP rs6793295 in the LRRC34 gene (OR = 1.14, CI 95 % 1.03 to 1.25, p value = 0.009) and rs11191865 in the OBFC1 gene (OR = 1.09, CI 95 % 1.00 to 1.19, p value = 0.043) in the discovery cohort. Additionally, rs7934606 in MUC2 (OR = 1.24, CI 95 % 1.01 to 1.52, p value = 0.037) was associated with SSc-ILD defined by imaging. However, these associations failed to replicate in the validation cohort. Furthermore, SNPs rs2076295 in DSP (β = -2.29, CI 95 % -3.85 to -0.74, p value = 0.004) rs17690703 in SPPL2C (β = 2.04, CI 95 % 0.21 to 3.88, p value = 0.029) and rs1981997 in MAPT (β = 2.26, CI 95 % 0.35 to 4.17, p value = 0.02) were associated with percent predicted forced vital capacity (FVC%) even after adjusting for the anti-topoisomerase (ATA)-positive subset. However, these associations also did not replicate in the validation cohort. Conclusions Our results add new evidence that SSc and SSc-related ILD are genetically distinct from IIP, although they share phenotypic similarities.
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Wu, Minghua; Assassi, Shervin; Salazar, Gloria; Pedroza, Claudia; Gorlova, Olga; Chen, Wei; et al. (2016). Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.3612122.v1
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AUTHORS (37)
MW
Minghua Wu
SA
Shervin Assassi
GS
Gloria Salazar
CP
Claudia Pedroza
OG
Olga Gorlova
WC
Wei Chen
JC
Julio Charles
MT
Miranda Taing
KL
Kelley Liao
FW
Fredrick Wigley
LH
Laura Hummers
AS
Ami Shah
MH
Monique Hinchcliff
DK
Dinesh Khanna
ES
Elena Schiopu
KP
Kristine Phillips
DF
Daniel Furst
VS
Virginia Steen
MB
Murray Baron
MH
Marie Hudson