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Objective: The purpose of the study was to examine whether the insertion (I) and/or deletion (D) polymorphism of ACE confers susceptibility to primary pterygium in Sardinian patients in a case-control study., Methods and Results: Polymorphism genotyping was performed by nested PCR using genomic DNA extracted from the whole peripheral blood of participants with (n=251) and without (n=260) pterygium. DD, ID and II genotype frequencies were: 48%, 39% and 13%, respectively, for patients with pterygium, and 15%, 40% and 44%, respectively, for the control group. A statistically significant difference was found between the pterygium and control groups for the ACE I/D polymorphism (p<0.001). Moreover, a statistically significant difference was found between the DD and II groups (p<0.01; OR=10.49; 95% CI 6.18 to 17.79), DD+ID versus II group (p<0.01; OR=5.23; 95% CI 3.37 to 8.13) and DD versus ID groups (p<0.01; OR=3.21; 95% CI 2.04 to 5.04)., Conclusions: Statistical analysis showed that the DD genotype is associated with an increased risk of developing pterygium, and with a good chance that the D allele may play an important role in the development of disease., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Alopecia Areata (AA) is an autoimmune disease characterized by well-circumscribed patches of hair loss especially from the scalp. Cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a negative regulator of T cells, has been associated with predisposition to most autoimmune disorders. We evaluated two CTLA4 functional single-nucleotide polymorphisms (SNPs) for potential association with Alopecia Areata in an Italian population using a case-control approach. We genotyped +49AG (rs231775) and CT60 (rs3087243) variants in 130 AA patients and 189 ethnically matched controls by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. CTLA4 +49AG analysis revealed no statistically significant difference in both the allele and genotype frequencies between patients and controls. As regarding CT60 SNP, we found that AA cases less frequently than healthy subjects carried A/A genotype with a higher prevalence of A/G and G/G genotypes (83.8 and 75.1 %; p = 0.041, OR = 0.58, 95 % CI 0.32-1.03), consistent with a dominant effect of G disease risk allele. In particular, it seemed to exert effects mainly in DQ7-negative patients with a less aggressive form of the disease. Haplotype analysis suggested that the G(+49AG), A(CT60) allelic combination was significantly related to a reduced disease risk (p = 0.014, OR = 0.28, 95 % 0.09-0.82). Altogether, our findings confirm that only CTLA4 CT60 polymorphism seems to be an important genetic determinant of Alopecia Areata development in Italian subjects.

Pterygium is a common ocular surface disorder characterized by excessive cell proliferation, inflammation, fibrosis, angiogenesis and extracellular matrix remodeling. The Angiotensin converting enzyme (ACE or ACE I) is the major component of the Renin-angiotensin system (RAS) converting the inactive decapeptide Angiotensin I (Ang I) to the active octapeptide Angiotensin II (Ang II). Besides this 'classical role', it can act as transcriptional regulator in response to external stimuli that may lead to cell damage and tissue remodeling. Due to this role, it can be internalized into the nuclear compartment to act as transcriptional factor for proteins involved in the inflammatory response. The aim of the present study was to determine ACE expression and localization in pterygium and culture pterygium cells by immunohistochemistry. Our results are the first to demonstrate nuclear immunolocalization of ACE, more so in pterygium compared to conjunctiva epithelial cells in histological sections. ACE was not detected in the nuclei of subcultivated pterygium epithelial cells. The nuclear localization of ACE may be correlated with an anti-inflammatory path mediated by activation of its transcriptional role.