Analysis and Identification of Genetic Predisposition and Clinical Risk Factors for Lung Cancer: A Regional Genetic...

Lung cancer prevalence is rising in Taiwan, with female gender and family history being key factors. This study evaluated the predictive capabilities of the PGS000070 polygenic risk score (PRS) model in Taiwanese populations, analyzing patient outcomes, pathology type, comorbidities, smoking history, and surgical procedures.

A retrospective analysis using data from 54,962 participants in the Taiwan Precision Medicine Initiative. Among them, 1,673 participants with lung cancer were genotyped using the Affymetrix Genome-Wide TWB 2.0 SNP array. Logistic regression explored the association between PGS000070 and lung cancer risk in both genders. Subgroup analysis was conducted for females.

Among 1,673 individuals with complete genotypes, no significant age differences were observed among groups (p = 0.4157). Higher PGS000070 scores were significantly linked to elevated lung cancer risk. Females in the highest PRS quartile (Q4) had an odds ratio of 2.017 (95% confidence interval = 1.654-2.459, p < 0.0001) compared to the lowest quartile (Q1). Males showed a similar pattern. Lobectomy was most common in Q4 (25.12%), with higher lymph node dissection rates in Q4 (35.45%) compared to Q1 (27.51%).

This study demonstrates a significant association between PGS000070 and increased lung cancer risk in both genders. Higher PRS scores were linked to a higher proportion of surgeries. Prospective large-scale studies are needed to further investigate the interplay of sex, genetic background, and comorbidities.