Genetic Evidence Supporting a Causal Role of Snoring in Keratoconus: A Bidirectional Mendelian Randomization Study

Area of Science:

• Ophthalmology
• Genetics
• Sleep Medicine

Background:

• Keratoconus (KCN) is a progressive eye condition affecting corneal shape.
• The relationship between snoring and KCN has been debated, necessitating robust investigation.
• Understanding causal links is vital for effective clinical prevention and treatment strategies.

Purpose of the Study:

• To investigate the potential causal association between snoring and the development of keratoconus (KCN).
• To provide genetic evidence clarifying the controversial link between snoring and KCN.

Main Methods:

• A 2-sample bidirectional Mendelian randomization (MR) case-control study was conducted.
• Genetic variants associated with snoring were identified from the UK Biobank cohort.
• Summary statistics for KCN were obtained from a European ancestry cohort, with analyses employing inverse-variance-weighted, weighted median, and MR-pleiotropy residual sum and outlier methods.

Main Results:

• A significant causal effect of snoring on the elevated risk of KCN was observed (inverse-variance-weighted: P = 0.015).
• This association was consistent across multiple analytical methods, including weighted median (P = 0.010) and MR-pleiotropy residual sum and outlier (P = 0.028).
• No evidence of a causal effect of KCN on the risk of snoring was found.

Conclusions:

• This study provides strong genetic evidence supporting snoring as a causal factor for keratoconus (KCN).
• The findings offer novel insights that could inform future management and prevention strategies for KCN.