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


ABSTRACT: 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.

SUBMITTER: Demurtas P 

PROVIDER: S-EPMC4208047 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

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

Demurtas Paolo P   Orrù Germano G   Coni Pierpaolo P   Minerba Luigi L   Corrias Michela M   Sirigu Paola P   Zucca Ignazio I   Demurtas Elena E   Maxia Cristina C   Piras Franca F   Murtas Daniela D   Lai Simone S   Perra Maria Teresa MT  

BMJ open 20141023 10


<h4>Objective</h4>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.<h4>Methods and results</h4>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  ...[more]

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