Transforming growth factor-β1 gene polymorphisms in Korean women with endometriosis

Lee HJ, Hye Jun Lee, Hoon Kim, Kim H, Seung‐Yup Ku, Ku SY, Seung-Yup Ku, Seok Hyun Kim, Kim SH, Kim JG, Jung Gu Kim
American journal of reproductive immunology (New York, N.Y. : 1989) · 2011 · vol. 66(5) , pp. 428–434 · doi:10.1111/j.1600-0897.2011.01009.x · PMID:21623988 · W1595245770
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This study analyzed TGFB1 gene polymorphisms and serum levels in Korean women, finding a TC haplotype allele associated with early-stage endometriosis and higher serum TGF-β1 in affected individuals.

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Abstract

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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Condition tags

endometriosis

MeSH descriptors

Asian People Endometriosis Endometriosis Genetic Predisposition to Disease Genetic Predisposition to Disease Polymorphism, Genetic Transforming Growth Factor beta1 Adult Adult Asian People Asian People Endometriosis Endometriosis Endometriosis Female Female Haplotypes Haplotypes Humans Humans

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