From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal risk
|
| (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
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
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]
| PharmGKB | PA162361481 |
| Name | LDLR: 16730C>T, |
| Annotation | The C-allele of LDLR: 16730C>T was predictive of change in systolic blood pressure in response to atenolol. |
| Gene | LDLR |
| Featue | |
| Evidence | PubMed ID:15453913 |
| Drugs | atenolol, irbesartan |
| Diseases | Hypertension |
| Curation Level | Curated |
[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
