Key result
The apoepsilon4 allele frequency was significantly higher in patients with possible type IIa hypercholesterolemia compared to healthy controls, and the apoE4 genotype influenced total cholesterol levels.
Why the study?
What genetic mutations and polymorphisms are associated with possible type IIa hypercholesterolemia in Indian subjects?
Case-Control (n=131)
What genetic mutations and polymorphisms are associated with possible type IIa hypercholesterolemia in Indian subjects?
The study identifies specific LDLR mutations and highlights the influence of the apoE4 genotype on total cholesterol levels in Indian patients with possible type IIa hypercholesterolemia.
ApoE4 may aid genetic risk profiling in Indian type IIa hypercholesterolemia; leaves open clinical utility pending prospective validation.
We performed genetic analysis in 55 patients with clinical features of possible type IIa hypercholesterolemia and 76 normolipemic healthy subjects for mutations and polymorphisms in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B-100 (APOB), apolipoprotein E (APOE), and hepatic lipase (LIPC) genes to elucidate the important genetic factors that can influence cholesterol levels in our population. None of the subjects showed mutations in part of exon 26 of the APOB gene, whereas two class 5 mutations were identified in exon 9 of the LDLR gene. First, an E387K mutation was observed in a Gujarati family in which both the parents were heterozygous for the mutation. Second, a L393R mutation was observed in a 38-year-old female. We found no correlation between LIPC -514C/T genotypes and cholesterol levels whereas the apoepsilon4 allele frequency was significantly higher in cases and the apoE4 genotype was found to influence total cholesterol levels.
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Kondkar et al. (2007) conducted a case-control in Type IIa hypercholesterolemia (n=131). Genetic mutations and polymorphisms in LDLR, APOB, APOE, and LIPC genes vs. Normolipemic healthy subjects was evaluated on Presence of mutations and polymorphisms and their correlation with cholesterol levels. The apoepsilon4 allele frequency was significantly higher in patients with possible type IIa hypercholesterolemia compared to healthy controls, and the apoE4 genotype influenced total cholesterol levels.
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