Results
| PMID | 18687423 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ERalpha (X allele of ERalpha-XbaI), IL-10 (-592 or -819 C allele ) |
| Population size | 374 |
| Population details | 374 (214 affected women, 160 controls) |
| Sex | Female |
| Associated genes | Eralpha, IL-10 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2009 Jul;92(1):54-60. doi: 10.1016/j.fertnstert.2008.04.069. Epub Xie, Jingyan| Wang, Shukui| He, Bangshun| Pan, Yuqin| Li, Yujuan| Zeng, Qingdi| Jiang, Huaxin| Chen, Jialiang Central Laboratory of Nanjing First Hospital affiliated to Nanjing Medical University, Nanjing, People's Republic of China. OBJECTIVE: To determine whether polymorphisms of the estrogen receptor alpha (ERalpha) and interleukin-10 (IL-10) genes are associated with endometriosis in a Chinese population. DESIGN: Association study. SETTING: University hospital. PATIENT(S): Chinese women diagnosed with endometriosis by laparotomy or laparoscopy. INTERVENTION(S): Determination of polymorphisms of the ERalpha and IL-10 genes was performed by polymerase chain reaction and restriction fragment length polymorphism analysis in 214 affected women and 160 controls. MAIN OUTCOME MEASURE(S): Frequency and distribution of PvuII and XbaI polymorphisms of ERalpha and of BslI, SspI, and RsaI polymorphisms of IL-10. RESULT(S): There was no significant difference between the endometriosis patients and the control groups in the genotype frequency of ERalpha-PvuII and promoter of IL-10 gene polymorphisms in the position of -1082. However, the frequency of ERalpha-XbaI and -592 or -819C alleles of IL-10 in the endometriosis group was significantly higher than that of controls, and further analysis showed that the X allele of ERalpha-XbaI was associated with endometriosis. CONCLUSION(S): The X allele of ERalpha-XbaI and the -592 or -819 C allele of IL-10 are associated with endometriosis. Mesh Terms: Adult| Aged| Asian Continental Ancestry Group/genetics| China| DNA/genetics/isolation & purification| DNA Primers| Endometriosis/*genetics/*surgery| Estrogen Receptor alpha/*genetics| Female| Gene Frequency| Humans| Interleukin-10/*genetics| L |
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