Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele.
Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryonic life.



We assessed plasminogen activator inhibitor-1 (PAI-1) 4G/5G, methylenetetrahydrofolatereductase (MTHFR), FACTOR V LEIDEN and PROTHROMBIN gene polymorphisms on 130 patients [82/48 females/males; Median age: 57 (18-84) with visible CAs and 100 (64/36: female/male; Median age: 55 (19-90)] without visible CAs.



Using multiple logistic regression models, we found PAI-1 4G/5G; MTHFR (C677T and A1298C) polymorphisms to have significant effects on the probability of visible CAs, that having at least one 5G allele would increase the odds of having visible cilioretinal artery by 98.4% [Odds ratio: 1984 (95% CI: 1.320-3.000, p = 0.001)], and having at least one MTHFR C677T or A1298C allele would decrease the odds of having visible CAs by approximately 38% (OR = 0.618, 95% CI: 0.394-0.961, p = 0.035) or 44% (OR = 0.558, 95% CI: 0.354-0.871, p = 0.011), respectively.



This is the first study to test the existence of significant association between presence of enlarged and visible CAs and genetic factors predisposing to thrombosis, according to the literature. Here we suggest that not only the lack of genetic predisposition to thrombosis by MTHFR gene polymorphisms, but also the PAI-1 5G allele might promote vasculogenesis of CAs.
a Department of Medical Genetics, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Sarenur
S
Yilmaz
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Aylin
A
Ardagil
a Department of Medical Genetics, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Ibrahim
0000-0002-7487-4603
I
Akalin
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Meltem Guzin
MG
Altinel
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Yasar
Y
Dag
c Department of Biostatistics, Faculty of Medicine , Istanbul Medeniyet University , Istanbul , Turkey.
Esra
E
Kurum
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Efe
E
Koyun
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Sevil
S
Ari Yaylali
b Department of Ophthalmology, Faculty of Medicine , Goztepe Research and Training Hospital, Istanbul Medeniyet University , Istanbul , Turkey.
Huseyin
H
Bayramlar
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019842:Ciliary Arteries / Q000473:pathology*; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011516:Prothrombin / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D012161:Retinal Artery / Q000473:pathology*; D015861:Retinal Neovascularization / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics; D055815:Young Adult
D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
5G allele; PAI-1; angiogenesis; cilioretinal artery; thrombophilia