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Updated: Jun 28, 2026

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
Published on: June 28, 2018
A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis
Suh-Hang Hank Juo1, Rita Wu2, Chang-Shen Lin3
1Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Objective:
To investigate the involvement of inflammation in the development of endometriosis.
Design:
Case-control study to investigate the association between endometriosis and four inflammation-related genes: interleukin (IL)-6, IL-10, IL-1 beta, and cyclooxygenase-2.
Setting:
University hospital.
Patient(S):
We had 196 cases with pathologically proved endometriosis and 397 disease-free women as control subjects.
Intervention(S):
A total of 12 single nucleotide polymorphisms (SNPs) were selected for genotyping, including functional SNPs and common tagging SNPs.
Main Outcome Measure(S):
Logistic regression and haplotype analyses were performed to evaluate the genetic effect with adjustment for other covariates.
Result(S):
Genotypes at each SNP were in Hardy-Weinberg equilibrium in either case or control subjects, except for rs1800871 at IL-10 in the case subjects (P=.04). We found that the individuals carrying minor allele C of a functional promoter SNP rs1800871 at IL-10 was associated with a reduced risk by approximately twofold compared with the common TT genotype. The T allele was reported to have a lower gene expression level than the C allele, suggesting inadequate suppression of inflammation leading to endometriosis development. Haplotype analysis of the IL-10 gene did not yield a better result. Other genes were not associated with endometriosis.
Conclusion(S):
This study suggests that the functional promoter polymorphism at IL-10 may play a role in the development of endometriosis.
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