Rs4340

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs4340
PheGenI	rs4340
nextbio	rs4340
hapmap	rs4340
1000 genomes	rs4340
hgdp	rs4340
ensembl	rs4340
gopubmed	rs4340
geneview	rs4340
scholar	rs4340
google	rs4340
pharmgkb	rs4340
gwascentral	rs4340
openSNP	rs4340
23andMe	rs4340
23andMe all	rs4340
SNP Nexus
SNPshot	rs4340
SNPdbe	rs4340
MSV3d	rs4340

Gene

ACE

Chromosome

17

Orientation

plus

Position

61565892

Reference

GRCh37 37.1/131

Max Magnitude

Make rs4340(C;C)

Make rs4340(C;T)

Make rs4340(T;T)

rs4340 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:

• rs1799752
• rs13447447
• rs4646994

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

• (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). [PMID 12837457]

• (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).[PMID 18031458]

[PMID 18333655] (I) is found more commonly in sherpas

Neighbor	rs1799752
Distance	2

Neighbor	rs4646994
Distance	8

[PMID 20570668] Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau

OMIM	106180
Desc
Variant	0001
Related	also

[PMID 21722816] Contribution of Deletion in Angiotensin-converting Enzyme But Not A1166C Angiotensin II Type-1 Receptor Gene Polymorphisms to Clinical Outcomes in Atherothrombotic Disease [PMID 17092869] Haplotype structure of five SNPs within the ACE gene in the Tunisian population.

[PMID 18637188] RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.

[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.

[PMID 22908855] The linkage disequilibrium pattern of the angiotensin converting enzyme gene in Arabic and Asian population groups