The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.
Weissglas-Volkov D, Calkin AC, Tusie-Luna T, Sinsheimer JS, Zelcer N, Riba L, Tino AM, Ordoñez-Sánchez ML, Cruz-Bautista I, Aguilar-Salinas CA, et al. J Clin Invest. 2011 Aug; 121(8):3062-71. Epub 2011 Jul 18.