rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene.
In two recent studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730 (T) allele was very significantly associated with increased risk. Individuals with one copy of the rs1051730 (T) allele have increased risk for lung cancer about 1.3x, and those with two copies, rs1051730 (T;T), represented 1.8x increased risk.
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.
