Lasabova Zora, Stanclova Andrea, Grendar Marian, Mikolajcikova Silvia, Calkovska Andrea, Lenhartova Nina, Ziak Peter, Matasova Katarina, Caprnda Martin, Kruzliak Peter, Zibolen Mirko
a Biomedical Center Martin, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia.
b Department of Molecular Biology, Jessenius Faculty of Medicine , Comenius University , Martin , Slovakia.
Ophthalmic Genet. 2018 Jun;39(3):332-337. doi: 10.1080/13816810.2018.1432064. Epub 2018 Feb 21.
Retinopathy of prematurity (ROP) is a multifactorial disease occurring in preterm neonates, caused by incorrect development of retinal blood vessels. It has been suggested that, in addition to gestational age, weight, and oxygen supplementation, genetic factors can play a role in the pathogenesis of ROP.
In the present prospective study, 97 neonates were enrolled based on the gestational age and weight, and genomic DNA from patients diagnosed with ROP and premature newborns without ROP was collected. The DNA sequence of protein coding and 5´and 3´ untranslated regions (UTRs) of the frizzled-4 (FZD4) gene and the genotype of the locus rs7934165:G˃A (NM_170731.4: c.3 + 10976 C˃T) within the brain-derived neurotrophic factor gene (BDNF) were determined.
We detected a significant association between rs61749246:C˃A (NM_012193.3: c.*2G˃T) and ROP in a general genetic model as well as in a multiplicative model and by the Cochran-Armitage test for trend. Moreover, rs61749246 was strongly associated with ROP, requiring surgical intervention.
We suggest that rs61749246:C˃A of the FZD4 gene is likely associated with the development of ROP. It is necessary to confirm this suggestion in larger studies.
早产儿视网膜病变（ROP）是一种发生在早产儿中的多因素疾病，由视网膜血管发育异常引起。有人提出，除了胎龄、体重和氧疗外，遗传因素在ROP的发病机制中也可能起作用。
在本前瞻性研究中，根据胎龄和体重纳入了97例新生儿，并收集了诊断为ROP的患者和未患ROP的早产新生儿的基因组DNA。测定了卷曲蛋白4（FZD4）基因的蛋白质编码区以及5′和3′非翻译区（UTR）的DNA序列，以及脑源性神经营养因子基因（BDNF）内rs7934165：G˃A（NM_170731.4：c.3 + 10976 C˃T）位点的基因型。
在一般遗传模型、乘法模型以及Cochran-Armitage趋势检验中，我们检测到rs61749246：C˃A（NM_012193.3：c.*2G˃T）与ROP之间存在显著关联。此外，rs61749246与需要手术干预的ROP密切相关。
我们认为FZD4基因的rs61749246：C˃A可能与ROP的发生有关。有必要在更大规模的研究中证实这一观点。
