Session Information
Date: Monday, November 9, 2015
Title: Systemic Sclerosis, Fibrosing Syndromes and Raynaud's - Clinical Aspects and Therapeutics Poster II
Session Type: ACR Poster Session B
Session Time: 9:00AM-11:00AM
Background/Purpose:
To determine possible association of Cav-1 genetic variants: rs926198, rs959173 and rs9920 with SSc and/or SSc-related ILD progression.
Methods:
Three Cav-1 single nucleotide polymorphisms (SNPs) (rs 926198, rs 959173 and rs 9920) were genotyped in a total of 630 Turkish individuals (410 SSc patients and 220 healthy subjects). Genotyping was performed using TaqMan 5’ allele discrimination predesigned assays from Applied Biosystems, Foster City, CA, USA) in a LightCycler® 480 Real-Time PCR System (Roche Applied Science, Mannheim, Germany). Genotyping call rate was > 98% for all the genotyped SNPs. Serum and sputum samples were collected from 54 SSc-ILD patients at 0, 6, and 12 months. Quantitative CT images were taken at 0,12 months. The possible association of Cav-1 gene SNPs and ILD progression in one-year follow up was determined.
Results:
A total of 402 SSc patients were recruited to the study (Mean age: 48.9 (12-78) and F:M; 390:20). The clinical characteristics of patients were as follows: Limited cutaneous SSc vs diffuse cutaneous SSc were 60.4% (n=243) vs 39.6 %(n=159), respectively. Interstitial lung disease was observed in 58.6% of patients (n=222). Anti-topoisomerase I antibodies (ATA) were found in 42.6% of patients (n=176). No significant association was observed between any CAV1 SNP and ATA. Genotype analysis and minor allele frequencies of the Cav-1 rs926198, rs959173 and rs 9920 SNP in patients with SSc and controls were shown in table 1. Among SSc-ILD patients who carried the rs959173 C minor allele displayed significantly higher CAV-1 in serum and lesser progression in ILD than in those carrying TT genotype (0.364±0.118 vs 0.247±072, p<0.001)
Conclusion:
Our results suggest that Cav1 rs959173 C allele may have a protective role in SSc-ILD progressions. Although a clear association of Cav 1 genetic variants and SSc was not determined in the Turkish patients with SSc, similar trends were observed with the previously published Italian cohort by Manetti M1.
Table 1.
|
SNP |
Subgroup |
TT |
TC |
CC |
MAF(%) |
P value |
|
rs926198T/C |
Controls (n:217) SSc (n:402) lCSc (n:243) dCSc (n:159) |
87 (40.1%) 162(40.3%) 97(39.9%) 62(38.9%) |
98 (45.2%) 173 (43%) 110(45.2%) 73(42.1%) |
32 (14.7%) 67(16.7%) 36(14.9%) 24 (15%) |
37.3 38.1 37.4 38.0 |
NS NS NS NS |
|
rs959173T/C |
Controls (n:217) SSc (n:400) lCSc (n:243) dCSc (n:157) |
149(68.7%) 284 (71%) 170(69.9%) 111(70%) |
63 (29%) 104(26%) 67(27.6%) 42 (26.8%) |
5 (2.3%) 10 (2.5%) 6 (2.46%) 4 (2.5%) |
16.8 15.5 16.3 15.9 |
NS NS NS NS |
|
Rs9920T/C |
Controls (n:217) SSc (n:402) lCSc (n:243) dCSc (n:159) |
192(88.6%) 342 (85.1%) 194(79.8%) 134(84.3%) |
25 (11.5%) 54 (13.4%) 46(18.4%) 22(13.8%) |
0 6(1.5%) 3(1.2%) 3(1.9%) |
5.8 8.2 10.7 8.8 |
NS NS P<0.01 NS |
To cite this abstract in AMA style:
Yavuz S, Lopez-Isac E, Onat AM, Yilmaz N, Kilic L, Akdogan A, Martín J. Caveolin 1 Gene Variants May Effect Disease Progression in Systemic Sclerosis Related Interstitial Lung Disease [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/caveolin-1-gene-variants-may-effect-disease-progression-in-systemic-sclerosis-related-interstitial-lung-disease/. Accessed .« Back to 2015 ACR/ARHP Annual Meeting
ACR Meeting Abstracts - https://acrabstracts.org/abstract/caveolin-1-gene-variants-may-effect-disease-progression-in-systemic-sclerosis-related-interstitial-lung-disease/