Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia
Key result
Rare variants in non-GWAS candidate genes were significantly more frequent in patients with polygenic adult-onset hypertriglyceridemia compared to controls (OR 2.3; P=0.0050).
Why the study?
Do rare variants in non-GWAS candidate genes accumulate more frequently in patients with polygenic adult-onset hypertriglyceridemia compared to controls?
Population
413 patients with polygenic adult-onset hypertriglyceridemia (HTG) and 324 control subjects
Comparison
Resequencing of protein coding regions of 5… vs Control subjects
Design
Case-control
Authors
Discussion
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Member takes
Implication
Should not yet change management; extends candidate gene evidence but remains hypothesis-generating.
Study Design
Type
Case-Control (n=737)
Structured PICO
Do rare variants in non-GWAS candidate genes accumulate more frequently in patients with polygenic adult-onset hypertriglyceridemia compared to controls?
P
Population
737 individuals, comprising 413 patients with polygenic adult-onset hypertriglyceridemia and 324 control subjects.
E
Exposure
Resequencing of protein coding regions of 5 non-GWAS candidate genes (APOC2, GPIHBP1, LMF1, CREB3L3, ZHX3)
C
Comparator
Control subjects
O
Outcome
Accumulation of rare genetic variants in the selected genessurrogate
Main Result
Odds Ratio: 2.3
Absolute Event Rate: 11.4% vs 4.9%
p-value: p=0.0050
Rare genetic variants in non-GWAS candidate genes (especially LMF1, APOC2, and CREB3L3) are significantly enriched in patients with polygenic adult-onset hypertriglyceridemia.
Cite This Study
Johansen et al. (2011) conducted a case-control in Hypertriglyceridemia (n=737). Rare variants in non-GWAS candidate genes vs. Control subjects was evaluated on Accumulation of rare variants in 5 candidate genes (APOC2, GPIHBP1, LMF1, CREB3L3, ZHX3) (OR 2.3, p=0.0050). Rare variants in non-GWAS candidate genes were significantly more frequent in patients with polygenic adult-onset hypertriglyceridemia compared to controls (OR 2.3; P=0.0050).