Association of rare LIPG regulatory variants with HDL-C phenotypic extremes.

aRare variants found in individuals from both HHDL and LHDL Sequencing Cohorts.bIndividuals were included if they harbored at least 1 rare LIPG regulatory variant of those identified. Three individuals from the HHDL Sequencing Cohort had two rare regulatory mutations each: one with −1487 A>G and −1080 G>T, one with −1234 C>T and −324 A>G, and one with −1487 A>G and −303 A>G. All three individuals were included once each in the total counts.cThe number of individuals with a rare variant was compared between the 2 cohorts with a 2-tailed Fisher's exact test. All rare variants were considered, regardless of functional impact on LIPG expression and including variants found in both sequencing cohorts.dFunctional variants were found to alter LIPG promoter activity relative to WT in vitro by luciferase reporter assays (Figure 2).eVariants decreasing promoter activity were tested for association with the HHDL Sequencing Cohort with a 2-tailed Fisher's exact test. All functional variants decreasing promoter activity were tested, including variants found in both sequencing cohorts.fVariants increasing promoter activity were tested for association with the LHDL Sequencing Cohort with a 2-tailed Fisher's exact test. All functional variants increasing promoter activity were tested, including variants found in both sequencing cohorts.gExclusive variants are defined as variants occurring in individuals in either of the 2 sequencing cohorts.hNumber of individuals with a rare exclusive variant decreasing promoter activity was compared between the 2 cohorts via 2-tailed Fisher's exact test.iNumber of individuals with a rare exclusive variant increasing promoter activity was compared between the 2 cohorts via 2-tailed Fisher's exact test.