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Transforming Growth Factor‐β1 Gene Polymorphisms in Korean Women With Endometriosis
Author(s) -
Lee Hye Jun,
Kim Hoon,
Ku SeungYup,
Kim Seok Hyun,
Kim Jung Gu
Publication year - 2011
Publication title -
american journal of reproductive immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.071
H-Index - 97
eISSN - 1600-0897
pISSN - 1046-7408
DOI - 10.1111/j.1600-0897.2011.01009.x
Subject(s) - endometriosis , haplotype , genotype , allele , restriction fragment length polymorphism , polymorphism (computer science) , transforming growth factor , biology , allele frequency , gene , genetics , medicine , endocrinology
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.