# Surfactant Proteins A and D Nucleotide Variants: Association with Retinal Vascular Disease

## TL;DR

This study finds that genetic variations in surfactant proteins A and D are linked to an increased risk of retinopathy of prematurity in premature infants.

## Contribution

The study reports novel associations between specific SNPs in SP-A and SP-D genes and retinopathy of prematurity risk.

## Key findings

- The SFTPA1 SNP rs1059057 'G' allele is associated with increased odds of ROP when adjusting for GA and oxygen.
- The SFTPA2 SNP rs1965707 'T' allele is linked to higher ROP risk in both the whole cohort and in infants with BPD.
- The protective effect of gestational age is reduced in the presence of the SFTPA2 'T' allele.

## Abstract

Retinopathy of prematurity (ROP) is associated with systemic inflammation. Surfactant proteins A and D (SP-A and SP-D) play an immunomodulatory role. We previously reported the impact of SP-A on retinal angiogenesis. This study investigates SP-A and SP-D single nucleotide polymorphisms (SNPs) with risk of ROP.

Subjects were infants with gestational age (GA) of <32 weeks and/or birth weight <1500 grams. DNA from blood was used to genotype the SNPs. Statistical analysis used logistic regression for association of ROP with genetic and clinical factors including bronchopulmonary dysplasia (BPD), GA and oxygen exposure.

A total of 59 infants were enrolled. In the whole cohort, the SFTPA1 SNP rs1059057 ‘G’ allele was associated with increasing odds of ROP when controlling for GA and oxygen. In both the whole cohort and in BPD, the SFTPA2 SNP rs1965707 ‘T’ allele was associated with increasing odds of ROP risk when controlling for GA and oxygen. Furthermore, there was an interaction effect where the protective effect of GA in the presence of the wildtype (C/C) was diminished in the presence of the ‘T’ allele.

The study identifies novel associations between surfactant protein gene SNPs and ROP risk that may impact protein structure, function in the retinal vasculature.