Genetic Dissection of Carotenoid Variation by Integrating Quantitative Trait Loci Mapping and Candidate Region Association Study in Sweet Corn

Sweet corn is widely cultivated and valued for its palatability and nutritional quality, with kernels accumulating substantial carotenoids, which serve as essential antioxidants and vitamin A precursors. This study elucidated the genetic basis of carotenoid variation in sweet corn kernels by integrating quantitative trait loci (QTL) mapping with a candidate region association study. Seven carotenoid-related traits were quantified in a recombinant inbred line (RIL) population and its parental lines. QTL mapping based on a high-density genotyping-by-target sequencing (GBTS) map and BLUE values across two environments identified 15 loci on chromosomes 5, 6, 7, 8, and 9, explaining 3.83-17.25% of the phenotypic variance. Notably, chromosome 6 harbored a cluster of major-effect QTLs regulating β-cryptoxanthin, zeaxanthin, lutein, total carotenoids, and provitamin A contents. A regional association study within these linkage-defined intervals detected 71 significant SNPs (Bonferroni <i>p</i> < 1/n) and identified <i>Zm00001d036238</i>, encoding a GDSL esterase/lipase, as a strong candidate gene associated with β-cryptoxanthin accumulation. This gene exhibited kernel-specific expression in the endosperm and harbored a downstream cis-variant (Chr6: 78,466,427) correlated with increased carotenoid content. Allelic effect analysis indicated that the A/A genotype conferred markedly higher β-cryptoxanthin levels than other genotypes. Collectively, these findings provide valuable genetic resources for marker-assisted selection and biofortification breeding to enhance the nutritional quality of sweet corn.