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

Table 4 Association between the investigated genotypes in SSc-ILD (by imaging) patients compared to controls in the discovery and replication cohort

		SSc-ILD vs control (discovery cohort)		SSc-ILD vs control (replication cohort)
SNP (coded allele)	Gene	OR (95 % CI)	p value	OR (95 % CI)	p value
rs2736100 (T)^*	TERT	1.14 (0.93; 1.40)	0.199
rs2076295 (G)^*	DSP	1.13 (0.92; 1.39)	0.243
rs4727443 (A)^*	AZGP1	0.89 (0.71; 1.10)	0.270
rs7934606 (A) ^*	*MUC2*	1.24 (1.01; 1.52)	0.037	1.14 (0.81; 1.63)	0.444
rs2034650 (C)^*	IVD	0.86 (0.70; 1.06)	0.152
rs1981997 (A)^*	MAPT	0.81 (0.62; 1.06)	0.123
rs12610495 (G)^*	DPP9	1.17 (0.93; 1.46)	0.179
rs6793295 (C)^*	LRRC34	1.02 (0.80; 1.30)	0.863
rs2609255 (G)^*	FAMI3A	0.99 (0.77; 1.27)	0.919
rs11191865 (G)^*	OBFC1	1.08 (0.87; 1.32)	0.496
rs1278769 (A)^*	ATP11A	1.00 (0.79; 1.28)	0.987
rs1379326 (G)^†	CSMD1	0.68 (0.37; 1.27)	0.224
rs17690703 (T)^*	SPPL2C	1.23 (0.87; 1.72)	0.238

Gene names: TERT: telomerase reverse transcriptase; DSP: desmoplakin; AZGP1: alpha-2-glycoprotein 1, zinc-binding; MUC2: mucin 2; IVD: isovaleryl-CoA dehydrogenase; MAPT: microtubule-associated protein tau; DPP9: dipeptidyl-peptidase 9; LRRC34: leucine-rich repeat-containing 34; FAMI3A: family with sequence similarity 13, member A; OBFC1: oligonucleotide/oligosaccharide-binding fold containing 1; ATP11A: ATPase, class VI, type 11A; CSMD1: CUB and Sushi multiple domains 1; SPPL2C: signal peptide peptidase-like 2C
SSc systemic sclerosis, ILD interstitial lung disease, SNP single nucleotide polymorphism
^*Additive model; ^†Recessive model

ISSN: 1478-6362