Rs1051730

rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene.

In two recent (2008) studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele.[PMID 18385738, PMID 18385676]

An independent study published at the same time concluded that (T) allele carriers for SNP rs1051730 are not at higher risk of becoming smokers compared to (C) carriers. However, if they do smoke, (T) carriers are quite likely to smoke more cigarettes than (C) carriers, and as an apparent consequence, they are at higher risk for lung cancer as reported in this and other studies. This study therefore links rs1051730 directly to nicotine dependence, and indirectly to lung cancer.

According to DeCODE, the CC genotype at rs1051730 is associated with 0.88x risk of peripheral arterial disease (PAD).

Note: publications tend to refer to the risk allele as "A", however, the orientation reported for rs1051730 in dbSNP is for the opposite strand, so in keeping with reporting all SNPs in the orientation published in dbSNP, SNPedia refers to this same risk allele as the (T) allele.

23andMe blog (T;T) once more smoke per day.

rs1051730 influences how much alcohol it takes to have you feel a buzz. More professorially: rs1051730 influences the level of response to alcohol intake, as measured by body sway after having a 10am "3 drink challenge". rs1051730(T;T) individuals respond slower to alcohol, which generally is considered to actually increase their long-term risk of alcohol abuse.

23andMe blog (T;T) makes it harder to quit smoking

Peripheral Artery Disease