Interleukin 1 alpha (IL1A) polymorphisms and risk of endometriosis in Iranian population: a case-control study

Abstract

Endometriosis is one of the most common gynecological diseases and a major cause of pain and infertility. It is influenced by genetic, epigenetic, and environmental factors. Recently, genome-wide association studies have revealed a strong association between IL1A single nucleotide polymorphisms (SNPs) and increased risk of endometriosis in Japanese women. The aim of the present study was to evaluate the association of three IL1A SNPs, rs17561, rs1304037, and rs2856836 with the risk of endometriosis in Iranian population. Totally, 105 women with diagnosis of endometriosis and 102 healthy women as control group were included. Three SNPs of the IL1A, rs17561 G/T, rs1304037 A/G, and rs2856836 T/C, were genotyped by PCR and RFLP. The rs2856836 TC genotype was significantly higher (p = .002; OR = 3.1, 95% CI: 1.5–6.5) in the patients (28.1%) than the control group (12.7%). The rs2856836 CC genotype was significantly higher (p = .047; OR = 2.3, 95% CI: 1.0–5.3) in the patients (17.5%) than the control group (10.8%). The rs2856836 C allele was significantly higher (p = .001; OR = 2.2, 95% CI: 1.4–3.6) in the patients (31.6%) than the control group (17.2%). The IL1A rs2856836 T/C SNP was associated with susceptibility to endometriosis and the rs2856836 C allele may increase the risk of endometriosis in Iranian women.

摘要

子宫内膜异位症是最常见的妇科疾病之一, 是疼痛和不孕症的主要原因。它受遗传, 表观遗传和环境因素的影响。最近, 全基因组关联研究显示, IL1A单核苷酸多态性（SNP）与日本女性子宫内膜异位症风险增加之间有很强的关联。本研究的目的是评估三种IL1A SNP, rs17561, rs1304037和rs2856836与伊朗人群子宫内膜异位症的风险之间的关系。105名诊断为子宫内膜异位的妇女和102名健康妇女作为对照组被纳入研究。 通过PCR和RFLP对IL1A的三个SNP位点, rs17561 G / T, rs1304037 A / G和rs2856836 T / C进行基因分型。患者（28.1％）的rs2856836 TC基因型显着高于对照组（12.7％）（p = .002； OR = 3.1, 95％CI：1.5–6.5）。患者（17.5％）的rs2856836 CC基因型显着高于对照组（10.8％）（p = .047； OR = 2.3, 95％CI：1.0-5.3）。患者（31.6％）的rs2856836 C等位基因显着高于对照组（17.2％）（p = .001； OR = 2.2, 95％CI：1.4-3.6）。IL1A rs2856836 T/C SNP与子宫内膜异位症易感性相关, 而rs2856836 C等位基因可能会增加伊朗妇女子宫内膜异位症的风险。

Keywords:

• Endometriosis
• cytokine
• IL1A
• polymorphism
• association study

Acknowledgements

We would like to thank the patients, and other participants in this study.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This study was supported by a grant from the National Institute for Medical Research Development (NIMAD), Tehran, Iran, under the grant number 943750.