Rs1799752

rs1799752 is one of four SNPs representing perhaps the best studied ACE SNP. It is actually not a single nucleotide polymorphism at all; instead, it is an insertion/deletion of an Alu repetitive element in an intron of the ACE gene. Alleles containing the insertion are called "I" alleles, and "D" alleles lack the repetitive element. The other dbSNP entries all tagging this same single insertion/deletion SNP are:


 * rs4340
 * rs13447447
 * rs4646994

There are numerous association studies reported for these SNPs. Examples:


 * (D/D) homozygosity is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes among carriers of familial hypertrophic cardiomyopathy mutations


 * (I;I) homozygotes respond better to Viagra than (D;I) or (D;D) individuals, in a study of 100+ Caucasian men with erectile dysfunction. (OR 3.07, CI: 1.03 - 9.13, p=0.04).


 * (I;I) homozygotes are are higher risk for early-onset psoriasis, with an odds ratio of 1.88 (CI: 1.12-3.15, p=0.016).

23andMe blog snp puts women with migraines at higher risk for cardiovascular disease

This is flatly contradicted by, which in a study of 4,577 women over 12 years found no association between rs1799752 and migraine or migraine aura status.

According to a table published by the Alzheimer Research Forum, this SNP may be associated with susceptibility to Alzheimer's disease.