Association between the ACE insertion/deletion polymorphism and pterygium in Sardinian patients: a population based case-control study

DEMURTAS, PAOLO;ORRU, GERMANO;CONI, PIERPAOLO;MINERBA, LUIGI;CORRIAS, MICHELA;Sirigu, P;ZUCCA, IGNAZIO ALBERTO;Demurtas, E;MAXIA, CRISTINA;PIRAS, FRANCA;MURTAS, DANIELA;Lai, S;PERRA, MARIA TERESA

2014-01-01

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Abstract

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.