Association between endometriosis and polymorphisms in insulin-like growth factor binding protein genes in Korean women

Kim H, Hoon Kim, Seung‐Yup Ku, Seung-Yup Ku, Ku SY, Seok Hyun Kim, Kim SH, Young Min Choi, Choi YM, Jung Gu Kim, Kim JG
European journal of obstetrics, gynecology, and reproductive biology · 2012 · vol. 162(1) , pp. 96–101 · doi:10.1016/j.ejogrb.2012.01.022 · PMID:22381038 · W2018974483
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This study investigated the relationship between specific genetic variations in insulin-like growth factor binding protein genes and the presence of endometriosis in Korean women.

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Abstract

ObjectiveGenetic factors are known to be associated with the development and progression of endometriosis, but the genes related to endometriosis have not been defined. Insulin-like growth factor binding proteins (IGFBPs) are believed to be involved in the proliferation and apoptosis of cells that play an important role in the pathophysiologic mechanism of endometriosis. This study aimed to determine the association between endometriosis and polymorphisms of the IGFBP genes in Korean women.Study designIn a case-control study, the rs1995051, rs1065780 and c.759A>G single nucleotide polymorphisms (SNPs) in the IGFBP1 gene and the -672A>G, -202A>C and c.95C>G SNPs in the IGFBP3 gene were analyzed in 128 women with endometriosis and 108 normal control women.ResultsThe haplotype genotype composed of a combination of three IGFBP1 gene polymorphisms was not related to endometriosis, while the haplotype genotype of the IGFBP3 gene had a significant association with endometriosis. Women not carrying the AAG (-672A/-202A/c.95G) haplotype allele of three IGFBP3 gene polymorphisms have a 3.19-times higher risk of endometriosis compared with women with AAG homozygotes, and this trend was found in women with advanced endometriosis but not in women with early endometriosis.ConclusionsThe AAG haplotype allele of the -672A>G, -202A>C and c.95C>G polymorphisms in the IGFBP3 gene may be associated with advanced endometriosis in Korean women.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Insulin-Like Growth Factor Binding Protein 1 Insulin-Like Growth Factor Binding Protein 3 Polymorphism, Single Nucleotide Adult Alleles Asian People Asian People Case-Control Studies Endometriosis Female Genotype Haplotypes Humans Insulin-Like Growth Factor Binding Protein 1 Insulin-Like Growth Factor Binding Protein 3 Republic of Korea Women

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