rs2236242

This is a comprehensive review of gene-environment interactions in hypertension, summarizing recent research on how genetic variants interact with lifestyle factors (diet, alcohol, smoking, obesity, physical activity) to influence blood pressure regulation. The paper discusses key genetic variants including GNB3-C825T, BCL11B-rs8022678, NOS3-rs1799983, CYP4A11 variants, and FTO-rs9930333, and recommends lifestyle modifications and selective genetic testing for hypertension management in community healthcare settings.

This study identifies rs61757459 in SERPINA12 (vaspin) as a rare functional truncating variant (p.R211X) that results in a premature stop codon and is associated with lower circulating vaspin levels, particularly in children. Structural modeling and protein expression experiments demonstrate that the truncated vaspin protein lacks core structural elements (reactive center loop, central β-sheet), leading to misfolding and instability with degradation before secretion in HEK293 cells.