• Małgorzata Michalska-Jakubus, Marta Rusek, Małgorzata Kowal, and Dorota Krasowska.
• Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland. mjm@poczta.onet.pl
• Pol. Arch. Med. Wewn. 2021 Dec 22; 131 (12).

IntroductionAngiopoietin-1 (Ang-1) and -2 (Ang-2) concentrations were found to be associated with systemic sclerosis (SSc).ObjectivesWe explored whether single nucleotide polymorphisms of Ang-1 (ANGPT1) and Ang-2 (ANGPT2) genes can predict SSc susceptibility in Polish Caucasian patients.Patients And MethodsGenotyping by reverse transcriptase–polymerase chain reaction and Sanger sequencing was performed in 48 patients with SSc and 38 controls.ResultsIndividuals with the CC genotype of ANGPT2 rs2442598 were 3.29-fold more likely to develop SSc (odds ratio [OR], 3.288; 95% CI, 1.212–8.915; P = 0.02) compared with those carrying the CT variant. Subgroup analysis revealed that the G allele, CG, and CG+GG genotypes of ANGPT2 rs3739390 were associated with a 9-fold higher risk to develop a diffuse form of the disease compared with the C allele or CC genotype (OR, 9.00; 95% CI, 2.102–38.519; P = 0.002 and OR, 9.00; 95% CI, 1.112–72.824; P = 0.03, respectively) and patients carrying the CG variant presented with higher serum Ang-2 levels than those carrying the CC variant (P = 0.001). On the contrary, the likelihood of a diffuse disease subtype was 8.77-fold lower for the TT+AT than for the AA genotype of ANGPT1 rs2507800 (OR, 0.114; 95% CI, 0.014–0.932; P= 0.04). The C allele of ANGPT2 rs3739390 was associated with a 4.83-fold lower risk of digital ulcers (OR, 4.833; 95% CI, 1.089–21.437; P= 0.03).ConclusionsWe concluded for the first time in the literature that the ANGPT2 rs2442598 polymorphism might represent a susceptibility locus for SSc, whereas the ANGPT2 rs3739390 and ANGPT1 rs2507800 variants may affect the disease profile.

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