Rs688

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.

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.

SNP genotyping on a genome-wide amplified DOP-PCR template.

Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

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.

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Development of a fingerprinting panel using medically relevant polymorphisms.

Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

The role of HMGCR alternative splicing in statin efficacy.

Genomic features defining exonic variants that modulate splicing.

Role of SFRS13A in low-density lipoprotein receptor splicing.

Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.

Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.