Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Kuwaiti Children with Retinopathy of Prematurity

Abstract

Retinopathy of prematurity (ROP) is a disease characterized by neovascularization which occurs in infants with short gestational age and low birth weight and can lead to retinal detachment and blindness. In a proportion of ROP cases, the disease progresses to advanced stages despite rigorous intervention. The genotypes for angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism were determined in 181 premature Kuwaiti infants using a polymerase chain reaction (PCR) method. The incidence of different I/D genotypes was compared in ROP cases (n = 74) and non-ROP controls (n = 107) and within 2 subgroups of ROP patients: (1) in which ROP regressed spontaneously (stages 1–3, n = 53), and (2) in which ROP progressed to advanced stages (stages 4 and 5, n = 21). When the ROP cases were considered collectively as one group, the incidence of the DD genotype was almost identical to that of non-ROP controls. The incidence of heterozygous ID genotype was higher in non-ROP controls. The incidence of the II genotype was higher in ROP cases compared to non-ROP controls (p < 0.01). In contrast to this, when ROP cases were divided in 2 subgroups the incidence of the DD genotype was significantly higher in advanced stage ROP cases compared to spontaneously regressing ROP cases (p < 0.04). The incidences of ID and II genotypes were not significantly different amongst the 2 subgroups of ROP patients.

Genetic variants of frizzled‐4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity

“…Hence, it is likely that these two disorders have a similar aetiology. In support of this, it was recently reported that in some cases, advanced ROP is associated with mutations in the ND (15)(16)(17)(18)(19)(20) gene which when mutated also causes X-linked FEVR (3,9,23). The present study provides additional evidence that mutations in FZD4 may cause a small fraction of sporadic FEVR and ROP cases.…”

Polymorphisms in the Renin-Angiotensin System and Outcome of Very-Low-Birthweight Infants

“…In one study, the homozygous ACE-ins allele was more frequently found in 74 preterm infants with ROP compared to 107 control infants. In infants without spontaneous regression of ROP (n = 21) the homozygous ACE-del allele was significantly more prevalent [8] . We were not able to confirm these findings.…”

“…Several studies reported adverse respiratory outcomes of preterm infants associated to the ACE-ins/del polymorphism [4][5][6] , whereas other researchers were not able to confirm these findings [7] . Furthermore, the ACEins/del polymorphism was reported to be associated with retinopathy of prematurity [8] and a reduced insulin sensitivity in healthy preterm and term neonates [9] . The AA and AC genotype of the ATR1166A/C polymorphism was found to be associated with persistent ductus arteriosus in preterm infants [10] .…”

Genetic susceptibility to advanced retinopathy of prematurity (ROP)

“…However, studies [38,39] do not support the association of this polymorphism and the risk of advanced ROP in different populations. Similarly, angiotensin-converting enzyme gene polymorphism is found to be associated with ROP in Kuwaiti population [16] but not in the other population [40,41]. Additionally, suggestive association has been reported between AGTR1 (encodes angiotensin II type I receptor), IHH (Indian Hedgehog), TBX-5 (T-box 5), glycoprotein Ib alpha polypeptide (GP1BA) and cholesterol ester transfer protein (CETP) and development of ROP [42].…”