Genetic markers associated with endometriosis and use thereof
The present invention relates to novel genetic markers associated with endometriosis and risk of developing endometriosis, and methods and materials for determining whether a human subject has endometriosis or is at risk of developing endometriosis and the use of such risk information in selectively administering a treatment that at least partially prevents or compensates for an endometriosis related symptom.
1. A method for detecting the presence of a single nucleotide polymorphism (SNP) in genetic material from a human female subject having endometriosis, the method comprising: detecting one or more A alleles at SNP rs17265665 in the genetic material, wherein detecting comprises performing: DNA sequencing, hybridization with a complementary probe, an oligonucleotide ligation assay, a PCR based assay, or any combination thereof.
2. The method of claim 1 , further comprising detecting one or more G alleles at SNP rs7629235.
3. The method of claim 1 , wherein said method further comprises recording at least one endometriosis related clinical factor of said human female subject, wherein said endometriosis related clinical factor comprises age at menarche, body mass index (BMI), pelvic pain, infertility, or any combination thereof.
4. The method of claim 1 , wherein said method further comprises administering to said human female subject a therapeutic agent, wherein said therapeutic agent at least partially compensates for said endometriosis.
5. The method of claim 1 , wherein said human female subject is a fetus.
6. The method of claim 1 , further comprising detecting one or more A alleles at SNP rs6804141.
7. The method of claim 1 , further comprising detecting one or more T alleles at SNP rs1010146.
8. The method of claim 1 , further comprising detecting one or more A alleles at SNP rs17594526.
9. The method of claim 1 , wherein the genetic material comprises a tissue sample.