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Genetic causal inference between amblyopia and perinatal factors.


ABSTRACT: Amblyopia is a common visual disorder that causes significant vision problems globally. Most non-ocular risk factors for amblyopia are closely related to the intrauterine environment, and are strongly influenced by parent-origin effects. Parent-origin perinatal factors may have a direct causal inference on amblyopia development; therefore, we investigated the causal association between perinatal factors and amblyopia risk using a one-sample Mendelian Randomization (MR) with data from the UK Biobank Cohort Data (UKBB). Four distinct MR methods were employed to analyze the association between three perinatal factors (birth weight [BW], maternal smoking, and breastfeeding) and amblyopia risk, based on the summary statistics of genome-wide association studies in the European population. The inverse variance weighting method showed an inverse causal association between BW and amblyopia risk (odds ratio, 0.48 [95% CI, 0.29-0.80]; p = 0.004). Maternal smoking and breastfeeding were not causally associated with amblyopia risk. Our findings provided a possible evidence of a significant genetic causal association between low BW and increased amblyopia risk. This evidence may highlight the potential of BW as a predictive factor for visual maldevelopment and the need for careful management of amblyopia risk in patients with low BW.

SUBMITTER: Lee JY 

PROVIDER: S-EPMC9613760 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Genetic causal inference between amblyopia and perinatal factors.

Lee Ju-Yeun JY   Lee Sangjun S   Park Sue K SK  

Scientific reports 20221027 1


Amblyopia is a common visual disorder that causes significant vision problems globally. Most non-ocular risk factors for amblyopia are closely related to the intrauterine environment, and are strongly influenced by parent-origin effects. Parent-origin perinatal factors may have a direct causal inference on amblyopia development; therefore, we investigated the causal association between perinatal factors and amblyopia risk using a one-sample Mendelian Randomization (MR) with data from the UK Biob  ...[more]

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