ArticleJournal of clinical laboratory analysis2007
Genetic analysis of Indian subjects with clinical features of possible type IIa hypercholesterolemia.
Article in Journal of clinical laboratory analysis, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Gender specific effect of LIPC C-514T polymorphism on obesity and relationship with plasma lipid levels in Chinese children.Journal of cellular and molecular medicine · 2015Pooled it
- Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.Journal of clinical and diagnostic research : JCDR · 2017Article
- Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study.Indian journal of clinical biochemistry : IJCB · 2013Article
- Association of Sp1 tandem repeat polymorphism of ALOX5 with coronary artery disease in Indian subjects.Clinical and translational science · 2012Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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