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

Abstract

ObjectiveThe 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 resultsPolymorphism 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).ConclusionsStatistical 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.

Vitamin D and vitamin D receptor in patients with ophthalmic pterygium

“… 50 We investigated about vitamin D status in people living in Sardinia, an island in the centre of the Mediterranean Sea, characterized by high ultraviolet radiation level. 51 Our results demonstrate that both pterygium and control group showed insufficient level of plasma vitamin D. The reason of such suboptimal vitamin D concentration in a population with high insolation level has not been well understood yet; it may be linked to more skin pigmentation and sunshine avoiding behaviour, as in Spain, Greece and other parts of Italy, 50 but it might be also due to the well-known genetic peculiarity of Sardinians. Several anthropologists 52 , 53 define Sardinians as “the most differentiated population in the Mediterranean basin, as the result of genetic drift and geographic isolation, with a limited genetic impact from conquests of the island during history”.…”

Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study

“…The ACE gene is located on chromosome 17q23.3 with 26 exons and 25 introns spreading over about 2 Kb [95]. The presence (insertion) or absence (deletion) of an Alu repetitive element (287-bp repeat sequence) in intron 16 results in I and D alleles, respectively [92].…”

“…The circulatory ACE level is genetically determined by the I/D variant [105]. Individuals with DD genotype have a twofold increase in the serum ACE concentration in the normal population, with ID subjects having intermediate levels [110], leading to higher levels of circulating Ang II and vasoconstriction which are common in MI and hypertensive patients [95]. The results of these studies correlate with those of Suehiro et al [111] which showed an association between D allele and higher expression of the ACE mRNA that may affect the renin-angiotensin system in local regions.…”

Cultivation and characterization of pterygium as an ex vivo study model for disease and therapy

“…Being a benign process of uncontrolled cell proliferation, pterygium is a common ocular surface disorder which can vary from locally invasive, mild dysplasia to carcinoma in situ, characterized by proliferation, inflammation, fibrosis, angiogenesis and ECM breakdown [ [8][9][10]. The pathogenesis of pterygia is partly unknown, but might be due to an alteration of the normal stationary limbal epithelial basal cells giving rise to a zone of motile daughter cells − pterygium cells, which leave the limbal region and migrate as a group centripetally along the corneal basement membrane dissolving the Bowman's layer.…”