From the Research
The genetic variant rs141393523 is not directly associated with any specific condition based on the provided evidence. However, the provided studies discuss various genetic variants and their associations with different conditions, such as Familial Hypercholesterolemia (FH) and Hirschsprung's disease. The study with reference_id 1 [ 1 ] discusses the PCSK9-InsLEU polymorphism and its association with glucose homeostasis and diabetes risk in patients with Familial Hypercholesterolemia. Another study with reference_id 2 [ 2 ] mentions that various genetic variants, including those in the LDLR, APOB, PCSK9, and LDLRAP1 genes, can cause FH, but does not specifically mention the rs141393523 variant. Since none of the provided studies directly mention the rs141393523 variant, it is not possible to determine its associated condition based on the given evidence. It is essential to consult more recent and relevant studies to determine the association of the rs141393523 variant with specific conditions, prioritizing morbidity, mortality, and quality of life as outcomes. In clinical practice, when encountering a patient with a genetic variant of unknown significance, it is crucial to consider the patient's medical history, family history, and physical examination to guide further evaluation and management. Genetic counseling and testing may be necessary to determine the significance of the variant and develop an appropriate treatment plan. In the absence of direct evidence, a conservative approach would be to monitor the patient's health closely and adjust the management plan as new information becomes available.