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Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis

Authors

  • Hye Jun Lee,

    1. Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea
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  • Hoon Kim,

    1. Department of Obstetrics and Gynecology, Incheon Medical Center, Incheon, Korea
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  • Seung-Yup Ku,

    1. Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea
    2. Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
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  • Seok Hyun Kim,

    1. Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea
    2. Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
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  • Jung Gu Kim

    1. Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea
    2. Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
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Jung Gu Kim, Department of Obstetrics and Gynecology, Seoul National University Hospital, 28 Yeungun-dong, Chongno-Ku, Seoul 110-744, Korea.
E-mail: kimjg@plaza.snu.ac.kr

Abstract

Citation Lee HJ, Kim H, Ku S-Y, Kim SH, Kim JG. Transforming growth factor-β1 gene polymorphisms in Korean women with endometriosis. Am J Reprod Immunol 2011; 66: 428–434

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.

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