The @entity71102 variation in XXXX is associated with low plasma LDL- @entity165 in a Caucasian population.

@entity756 @entity755 @entity20136 @entity71102 @entity165
The genetic etiology of @entity20136 ( @entity20136 ) is unclear in the majority of cases. Mutations in @entity755 ( @entity755 ) are the only confirmed causes of @entity20136 . Recently, loss-of-function mutations of @entity756 gene have been shown to be associated with the hypocholesterolemia phenotype. Our primary goal was to confirm that mutations in @entity756 could be another cause of @entity20136 . Using the sequencing approach, we found that the @entity71102 variation in @entity756 , a common in-frame insertion in both African American and Caucasian populations, is associated with the hypocholesterolemia phenotype in three @entity20136 families. Then we tested whether this variation could be associated with lower @entity165 levels in the general population. A total of 403 subjects from a Caucasian population, in which hypobetalipoprotein (HBL) and normal groups were classified using standard criteria, were sequenced for this variation. The allele frequency of this variation in the HBL group was 0.186, but was only 0.128 in the normal lipid group. The mean plasma low-density lipoprotein (LDL)- @entity165 level in subjects heterozygous for this variant is significantly lower than that in the normal group (p<0.01). Heterozygous subjects also had higher high-density lipoprotein (HDL)- @entity165 levels (p<0.01). In general, LDL- @entity165 concentration in individuals with @entity756 @entity71102 variation was approximately 10-15 mg/dL lower than that in normal individuals. We conclude that the @entity71102 variant plays a role in lowering @entity165 in the general population.
