Assessing genetic and environmental components for pterygium: a nationwide study in Taiwan

This study aims to estimate the familial risks of pterygium and assess its relative contributions to environmental and genetic factors using the 2000–2017 Taiwan National Health Insurance Research Database. The marginal Cox's model and the polygenic liability model were made. In Taiwan, the prevalence rate of pterygium in 2017 was 1.64% for individuals with affected first-degree relatives, higher than the general population (1.34%). The adjusted relative risk (RR) for pterygium was highest for twins of the same sex (15.54), followed by siblings of the same sex (4.69), offsprings (3.39), siblings of the different sex (2.88), spouse (2.12), parents (1.86), twins of the different sex (1.57), respectively. The phenotypic variance of pterygium was 21.6% from additive genetic variance, 24.3% from common environmental factors shared by family members, and 54.1% from non-shared environmental factors, respectively. Sensitivity analysis by restricting those with surgical pterygium reveals that aRRs and the three components were similar to those of the overall pterygium. In summary, the prevalence rate of pterygium was higher for individuals with affected first-degree relatives than for the general population. The non-shared environmental factors account for half of the phenotypic variance of pterygium; genetic and shared environmental factors explain the rest.