Rs1042838

From SNPedia

[PMID 15632380] Two SNPs in haplotype block 4 of the PGR gene were associated with an increased risk of ovarian cancer among homozygous carriers as compared with noncarriers: rs1042838 (PROGINS allele; odds ratio [OR] = 3.23, 95% confidence interval [CI] = 1.19 to 8.75, P = .022) and rs608995 (minor allele; OR = 3.10, 95% CI = 1.63 to 5.89, P<.001). For rs1042838, the risk allele in orientation to the corresponding dbSNP entry is (T).

This SNP, which is located in the progesterone receptor gene PGR, has also been reported to be associated with migraine-associated vertigo. SNPs in genes involved in female hormonal pathways have been a subject of particular interest in the study of migraines because females appear to be more prone to migraines than males. [PMID 17609999]

Previous studies had suggested that the minor allele of this SNP might also influence breast cancer. However, a 2009 European study of 30,000 breast cancer cases, compared to 30,000 controls, found no association, or as they put it, "persuasive evidence against an overall association between invasive breast cancer risk and (this SNP)".[PMID 19423537]

[PMID 19673915] Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C-->G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population