Genetic regulation of lipid metabolism in Han Chinese adolescents from Xinjiang: An extreme phenotype sequencing approach.

The Xinjiang Uygur Autonomous Region of China is characterized by unique genetic and environmental factors, influenced by its geography, culture, and interethnic interactions. Understanding lipid metabolism in this population may help identify novel genetic regulators relevant to cardiovascular risk. An extreme phenotype sequencing strategy was applied to Han Chinese university students from Xinjiang. Individuals with extremely low triglyceride (TG) levels and those with normal TG levels were selected. Whole-exome sequencing was conducted, followed by bioinformatics filtering and variant prioritization based on frequency, predicted function, and phenotypic relevance. A total of 10 candidate genes (ACTN2, DHTKD1, NLRP9, PTPRA, INPP4B, PHGDH, PYROXD2, RIN1, MYRIP, and PRSS57) were identified as potentially involved in lipid metabolism regulation. Several of these genes are implicated in metabolic signaling pathways or cellular lipid processing. This study provides new insights into the genetic architecture of lipid metabolism among Han Chinese youth in Xinjiang. The identified genes warrant further validation through functional studies to elucidate their roles and potential as therapeutic targets for dyslipidemia.