||1.18x risk for breast cancer
||1.41x risk for breast cancer
rs2056116 is a somewhat unusual SNP, in that it is from an "ultraconserved element" of the genome, meaning it is from a stretch of over 200 base pairs that is absolutely identical between equivalent regions of human, mouse, and rat genomes. The functions of these elements is unknown, but they are thought to have regulatory roles of various sorts. They usually have less SNPs on average than other regions of the genome.[PMID 18174240]
The (G) allele of rs2056116 was found to be associated with higher risk for breast cancer, with an odds ratio of 1.18 (CI: 1.06-1.30, p=0.002). The odds ratio for the (G;G) genotype compared to the (A;A) genotype was 1.41 (CI: 1.15-1.74, p=0.0011). When patients were divided into younger vs older women, the odds ratios were increased for women under 50 years of age; for the (G) vs (A) allele, it was 1.27 (CI: 1.11-1.45, p=0.0005), and for (G;G) vs (A;A) genotypes, it was 1.60 (CI: 1.22-2.10, p=0.0007).[PMID 18174240]
[PMID 21331621] Genetic variants in ultraconserved elements and risk of breast cancer in Chinese population
[PMID 17357075] The strength of selection on ultraconserved elements in the human genome.