Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients

Arthritis Research & Therapy
Minghua WuMaureen D Mayes

Abstract

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. 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. 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 = 2.2...Continue Reading

References

Mar 3, 2007·Annals of the Rheumatic Diseases·Virginia D Steen, Thomas A Medsger
Apr 13, 2010·Nature Genetics·Timothy R D J RadstakeMaureen D Mayes
Apr 22, 2011·The New England Journal of Medicine·Max A SeiboldDavid A Schwartz
Apr 16, 2013·Nature Genetics·Tasha E FingerlinDavid A Schwartz
May 13, 2014·The Lancet. Respiratory Medicine·Paolo SpagnoloRoland M du Bois

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Citations

Dec 6, 2016·Clinical Genetics·Xiaoxia ZuoHonglin Zhu
Jun 19, 2017·Biochimica Et Biophysica Acta. Molecular Cell Research·Torben MentrupBernd Schröder
Feb 25, 2018·European Journal of Human Genetics : EJHG·Carmel J W Stock, Elisabetta A Renzoni
Dec 17, 2019·American Journal of Respiratory and Critical Care Medicine·Dinesh KhannaJohn Varga

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Methods Mentioned

BETA
genotyping
PCR
X-ray

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