Results
| PMID | 22392486 |
| Gene Name | TNFRSF11B |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TRAIL (c.49G>A, c.592A>G, c.615A>G, and c.662T>C; DR4 c.626G>C and c.1322A>G; DR5 c.95C>T, c.200C>T, and c.72T>G), OPG -(245T>G, c.9C>G, c.788A>C, and c.9938G>T) |
| Population size | 352 |
| Population details | 352 (138 women with endometriosis, 214 women without endometriosis) |
| Sex | Female |
| Associated genes | TRAIL, OPG |
| Other associated phenotypes |
Endometriosis |
|
Arch Gynecol Obstet. 2012 Jul;286(1):147-53. doi: 10.1007/s00404-012-2263-0. Epub Kim, Hoon| Ku, Seung-Yup| Suh, Chang Suk| Kim, Seok Hyun| Kim, Jong Hak| Kim, Jung Gu Department of Obstetrics and Gynecology, Incheon Medical Center, Incheon, Korea. PURPOSE: To evaluate the relationship between endometriosis and polymorphisms in the genes encoding tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL), TRAIL receptor (DR) and osteoprotegerin (OPG) and their serum levels in Korean women. METHODS: A case-control study was conducted with 138 women with endometriosis and 214 women without endometriosis in academic medical center. TRAIL c.49G>A, c.592A>G, c.615A>G, and c.662T>C; DR4 c.626G>C and c.1322A>G; DR5 c.95C>T, c.200C>T, and c.72T>G; OPG -245T>G, c.9C>G, c.788A>C, and c.9938G>T polymorphisms were investigated and circulating levels of TRAIL and OPG were measured. RESULTS: The TRAIL c.49G>A, c.615A>G, and c.662T>C; the DR4 c.626G>C; the DR5 c.72T>G; the OPG c.788A>C and c.9938G>T polymorphisms were not observed. The genotype distributions and allele frequencies of single or combined polymorphisms of TRAIL, DR4, DR5, and OPG measured in women with endometriosis were not different from those in women without endometriosis, regardless of endometriosis stage. Serum TRAIL and OPG levels were significantly lower in women with endometriosis than in women without endometriosis, but these levels did not show differences between early and advanced endometriosis. CONCLUSIONS: Endometriosis is associated with circulating TRAIL and OPG levels in Korean women but not with the TRAIL, DR, and OPG polymorphisms. Mesh Terms: Adult| Asian Continental Ancestry Group/genetics| Case-Control Studies| Endometriosis/*blood/*genetics| Female| Gene Frequency| Genotype| Humans| Osteoprotegerin/blood/*genetics| Polymorphism, Single Nucleotide| Receptors, TNF-Related Apoptosis- |
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