|(C;T)||0||normal risk for Alzheimer's; higher total and LDL cholesterol in females|
|(T;T)||1.5x higher risk for males of Alzheimer's; higher total and LDL cholesterol in females|
RNA made containing the rs688(T) SNP, a variant near exon 12 of the low-density lipoprotein receptor (LDLR) that is a receptor for ApoE proteins, is spliced at lower efficiency in males. Presumably due to this, the rs688(T;T) genotype was associated with increased risk for Alzheimer's disease odds in males (odds ratio 1.49, CI: 1.13-1.97, uncorrected p=0.005), but not in females.[PMID 18065781]
The presence of the rs688(T) allele associates with increased total and LDL-cholesterol in female members of the Framingham Offspring Study; rs688 was not associated with significant differences in HDL-cholesterol. The largest rs688-associated cholesterol differences were observed in pre-menopausal women. Taken together, rs688, a SNP present in approximately 60% of Caucasians, is associated with significant 10% increases in total and LDL-cholesterol in pre-menopausal women.[PMID 17517690][PMID 20810930] Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
[PMID 12434007] SNP genotyping on a genome-wide amplified DOP-PCR template.
[PMID 18159244] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
[PMID 18179892] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
[PMID 18714375] Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19888660] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20005478] The role of HMGCR alternative splicing in statin efficacy.
[PMID 20158892] Genomic features defining exonic variants that modulate splicing.
[PMID 20232416] Role of SFRS13A in low-density lipoprotein receptor splicing.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20807319] Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 20972250] Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23588940] Association of Polymorphisms Modulating Low-density Lipoprotein Cholesterol with Susceptibility, Severity, and Progression of Rheumatoid Arthritis
[PMID 24295502] Genetic Polymorphism of LDLR (rs688) Is Associated with Primary Intracerebral Hemorrhage
[PMID 22621231] Polymorphisms at the LDLR locus may be associated with ischemic cerebrovascular disease independent of lipid profile.
[PMID 23297366] A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.
[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity
|Disease||not specified Familial hypercholesterolemia|
|CLNDBN||not specified Familial hypercholesterolemia|
|CLNSRC||Instituto Nacional de Saúde Doutor Ricardo Jorge LDLR @ LOVD|