|| reported to increase heart disease risk yet also HDL-C (by 8.4mg/dl)
|| reported to be associated with higher HDL-C
, also known as c.1127C>T, p.Pro367Leu and P367L, represents a rare variation in the SCARB1
gene on chromosome 12.
[PMID 26965621] Targeted exome sequencing lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels led to the discovery of a rs74830677(T;T) homozygote. In a total of 852 individuals with high HDL-C compared to 1,156 with low HDL-C, the rs74830677(T) allele was significantly over-represented and, surprisingly, it was also associated with increased risk for coronary heart disease (odds ratio 1.79, p<0.0001). A carrier of the (T) allele appears to have a higher HDL-C of 8.4mg/dl on average. The variant allele was also said to apparently be relatively specific to Ashkenazi Jews.