Department of Obstetrics and Gynecology, College of Medicine, Inje University, Haeundae Paik Hospital, Busan, Korea.
Am J Reprod Immunol. 2012 Aug;68(2):154-63. doi: 10.1111/j.1600-0897.2012.01136.x. Epub 2012 Apr 17.
To investigate the association between polymorphisms of the interleukin-1 (IL-1) family genes and endometriosis in Korean women.
In this case-control study, the IL-1α -889C>T, IL-1 receptor antagonist (IL-1RA) 86-bp microsatellite, IL-1 receptor 1 (IL-1R1) 52C>A, 294C>T, 1498T>C, 1632A>G, IL-1R2 rs2072472 C>T and rs7561460 C>T polymorphisms were analyzed in women with (n = 138) and without (n = 214) endometriosis using restriction fragment length polymorphism (RFLP) analysis, TaqMan assay, or DNA sequencing. Serum IL-1α, soluble IL-1RA (sIL-1RA), and sIL-1R2 levels were measured by enzyme-linked immunosorbent assay (ELISA).
Among the polymorphisms measured, the 1498T>C polymorphisms in the IL-1R1 gene were found to be related with early-stage endometriosis but not with advanced-stage endometriosis. The genotypes with at least one T allele (CT + TT) were less frequently observed in early-stage endometriosis compared with normal controls (OR = 0.44, 95% CI = 0.22-0.87, P = 0.02). Serum sIL-1R2 levels were significantly lower (P < 0.01) in women with endometriosis than in normal controls, whereas no difference in serum sIL-1RA levels between these two groups was noted. The single and haplotype genotypes of the IL-1R2 and IL-1RA microsatellite polymorphisms were not related with these serum levels.
The IL-1R1 1498T>C polymorphism is associated with early-stage endometriosis in Korean women.
探讨白细胞介素-1（IL-1）家族基因多态性与韩国女性子宫内膜异位症的关系。
在这项病例对照研究中，通过限制性片段长度多态性（RFLP）分析、TaqMan 检测或 DNA 测序，分析了白细胞介素-1α-889C>T、白细胞介素-1 受体拮抗剂（IL-1RA）86-bp 微卫星、白细胞介素-1 受体 1（IL-1R1）52C>A、294C>T、1498T>C、1632A>G、IL-1R2 rs2072472 C>T 和 rs7561460 C>T 多态性与子宫内膜异位症患者（n=138）和非子宫内膜异位症患者（n=214）之间的关系。采用酶联免疫吸附试验（ELISA）检测血清白细胞介素-1α、可溶性白细胞介素-1 受体（sIL-1RA）和 sIL-1R2 水平。
在所测量的多态性中，IL-1R1 基因中的 1498T>C 多态性与早期子宫内膜异位症有关，但与晚期子宫内膜异位症无关。与正常对照组相比，早期子宫内膜异位症患者中至少携带一个 T 等位基因（CT+TT）的基因型较少（OR=0.44，95%CI=0.22-0.87，P=0.02）。子宫内膜异位症患者的血清 sIL-1R2 水平显著低于正常对照组（P<0.01），而两组间血清 sIL-1RA 水平无差异。IL-1R2 和 IL-1RA 微卫星多态性的单倍型和单体型基因型与这些血清水平无关。
在韩国女性中，IL-1R1 1498T>C 多态性与早期子宫内膜异位症有关。
