From SNPedia
| Genotype | Effect |
|---|
| rs2333227(C;C) | |
| rs2333227(C;T) | 0.8x decreased risk for lung cancer among smokers; increased gastric cancer risk |
| rs2333227(T;T) | 0.7x decreased risk for lung cancer among smokers; increased gastric cancer risk |
rs2333227 is a SNP in the promoter region of the myeloperoxidase MPO gene; it is also known as the -463 variant. It has been implicated in Alzheimer's disease, lung cancer, gastric cancer, and lupus nephritis in SLE patients.
In connection with Alzheimer's disease (AD):
- A study of 127 Finnish patients concluded that the rs2333227(T) allele increased the risk of Alzheimer's disease by 3.8 fold. This was derived by noting that a man with an ApoE allele has an AD odds ratio of 3.0 if they don't also have an rs2333227(T) allele, and an odds ratio of 11.4 if they do.[PMID 11087769]
- A study of 148 Italian sporadic AD patients yielded an odds ratio for the rs2333227(C;C) genotype (as oriented in dbSNP orientation) of 1.78 (CI: 1.13-2.80). The presence of rs669(G;G), in addition to rs2333227(C;C), appears to synergistically increase the risk of AD to an odds ratio of 25.5 (CI: 4.65-139.75), regardless of ApoE status.[PMID 15023809]
In connection with lung cancer:
- A pooled analysis of data from 10 studies (3688 cases) found an odds ratio for lung cancer of 0.88 (CI: 0.80-0.97) for rs2333227(C;T) heterozygotes, and 0.71 (CI: 0.57-0.88) for (T;T) homozygotes. This protective effect applied to both men and women, and appeared to apply to "ever" smokers but not "never" smokers.[PMID 17304047]
In connection with lupus nephritis:
- While there was no association with lupus (SLE) per se in this study of 200+ African-American patients, the risk of developing lupus nephritis among SLE patients was significantly higher among rs2333227(C;T) heterozygotes compared with (C;C) homozygotes (odds ratio 2.11, CI: 1.12-3.97), and it was even higher for (T;T) homozygotes versus (C;C) (odds ratio 3.52, CI: 1.41-8.77).[PMID 17896805]
In connection with gastric cancer:
- rs2333227(T) carriers are at increased risk for gastric cancer, based on a study of 157 Taiwanese patients. If they are also H. pylori-infected, they have a 7.9x increased risk of gastric cancer, either intestinal or diffuse types.[PMID 18505072]
