转化生长因子-β1 基因多态性与韩国子宫内膜异位症患者的相关性。
Transforming growth factor-β1 gene polymorphisms in Korean women with endometriosis.
机构信息
Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Korea.
出版信息
Am J Reprod Immunol. 2011 Nov;66(5):428-34. doi: 10.1111/j.1600-0897.2011.01009.x. Epub 2011 May 27.
PROBLEM
To investigate the association between endometriosis, transforming growth factor-β1 (TGFB1) gene polymorphisms, and serum TGF-β1 levels in Korean women.
METHOD OF STUDY
The -509C/T, 868T/C, 913G/C and 979G/A polymorphisms of the TGFB1 gene were analyzed in women with (n = 131) and without (n = 107) endometriosis using restriction fragment length polymorphism (RFLP) analysis. Serum TGF-β1 levels were measured by enzyme-linked immunosorbent assay (ELISA).
RESULTS
The 913G/C and 979G/A polymorphisms were not observed in the study participants. The genotype and allele distribution of the -509C/T and 868T/C polymorphisms in endometriosis were similar to those in controls. However, the -509T/868C (TC) haplotype allele was observed 4.55 times more frequently in early-stage endometriosis than in other haplotype alleles. Serum TGF-β1 levels were significantly higher in endometriosis than in controls. The single and haplotype genotype of -509C/T and 868T/C polymorphisms were not related with serum TGF-β1 levels.
CONCLUSION
The TC haplotype allele of TGFB1-509C/T and 868T/C polymorphisms may be associated with early-stage endometriosis in Korean women.
问题
探讨韩国女性子宫内膜异位症、转化生长因子-β1（TGFB1）基因多态性与血清 TGF-β1 水平之间的关系。
方法
采用限制性片段长度多态性（RFLP）分析方法，分析了患有（n=131）和不患有（n=107）子宫内膜异位症的女性 TGFB1 基因-509C/T、868T/C、913G/C 和 979G/A 多态性。采用酶联免疫吸附试验（ELISA）法测定血清 TGF-β1 水平。
结果
研究参与者中未观察到 913G/C 和 979G/A 多态性。子宫内膜异位症患者 -509C/T 和 868T/C 多态性的基因型和等位基因分布与对照组相似。然而，-509T/868C（TC）单倍型等位基因在早期子宫内膜异位症中比其他单倍型等位基因更频繁地出现 4.55 倍。子宫内膜异位症患者的血清 TGF-β1 水平明显高于对照组。-509C/T 和 868T/C 多态性的单倍型和基因型与血清 TGF-β1 水平无关。
结论
TGFB1-509C/T 和 868T/C 多态性的 TC 单倍型等位基因可能与韩国女性的早期子宫内膜异位症有关。
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