RELATIONSHIP BETWEEN POLYMORPHISMS OF INSULIN-LIKE GROWTH FACTOR (IGF) GENES AND ENDOMETRIOSIS IN KOREAN WOMEN

Abstract

OBJECTIVE: The purpose of this study was to investigate the relationship between the polymorphisms of the IGF-II, IGF-I and its receptor genes and endometriosis in Korean women. DESIGN: A case - control study. MATERIALS AND METHODS: The IGF-I -969 (CA) block, A(-603)T, and T(-553)C polymorphisms, and IGF-II c.517 C>T, c.540 G>T, and 820 G>A polymorphisms, and IGF-I receptor c.3129 G>A polymorphism were analyzed in women with (n¼129) and without endometriosis (n¼108) and male neonates(n¼122) by GeneScan, direct sequencing and restriction fragment length polymorphism. Women without endometriosis and male neonates were served as controls. Clinical stage was classified according to the revised American Fertility Society Classification. RESULTS: The IGF-I T(-553)C, IGF-II II c.517 C>T, and c.540 G>T polymorphisms were not observed. Among polymorphisms measured, the IGF-I receptor c.3129 G>A, and IGF-II 820 G>A polymorphisms were associated with endometriosis. AA genotype of the IGF-I receptor c.3129G>A polymorphism had lower risk of endometriosis (odds ratio: 0.52, 95% confidence level: 0.31-0.87) compared with other genotype, whileGG genotype of IGF-II 820 G>A polymorphism showed 2.3 times higher risk of endometriosis compared with non GG genotype. These relationships were observed in early stage endometriosis (stage I + stage II), but not in late stage endometriosis (stage III + stage IV). CONCLUSION: The IGF-I receptor c.3129 G>A, and IGF-II 820 G>A polymorphisms are genetic factors which may be associated with endometriosis in Korean women.