• PMID: 17028442
• Gene Name: INSL3
• Condition: Cryptorchidism
• Association: The results, in conjunction with the previous data, suggest that mutations of INSL3 and LGR8/GREAT remain rare, and that the Thr/Thr genotype of Ala60Thr polymorphism in INSL3 may constitute a susceptibility factor for the development of CO.
• Mutation: Ala60Thr polymorphism in INSL3
• Population size: 122
• Population details: 122 (62 patients with cryptorchidism, 60 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: INSL3, LGR8/GREAT
• Other associated phenotypes: Cryptorchidism

Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism

Yamazawa K, Wada Y, Sasagawa I, Aoki K, Ueoka K, Ogata T.

BACKGROUND/AIMS: Although insulin-like factor 3 (INSL3) and its receptor leucine-rich repeat-containing G protein-coupled receptor 8/G protein-coupled receptor affecting testis descent (LGR8/GREAT) are essential for the gubernacular development, mutations of INSL3 and LGR8/GREAT are infrequent in patients with cryptorchidism (CO), and there is no report documenting a positive association of CO with a polymorphism in INSL3 or LGR8/GREAT. Here, we further examined the relevance of INSL3 and LGR8/GREAT mutations and polymorphisms to the development of CO. METHODS: Sixty-two Japanese CO patients and 60 fertile males were studied. INSL3 was analyzed by direct sequencing and restriction enzyme digestion, and LGR8/GREAT was examined by denaturing high-performance liquid chromatography followed by direct sequencing for exons with abnormal chromatogram patterns. RESULTS: No definitive mutation was identified in both genes. Six polymorphisms were detected in INSL3 or LGR8/GREAT and Thr/Thr genotype of Ala60Thr polymorphism in INSL3 was strongly associated with CO (p=0.0024, odds ratio=5.3, 95% confidence interval=1.7-17). CONCLUSION: The results, in conjunction with the previous data, suggest that mutations of INSL3 and LGR8/GREAT remain rare, and that the Thr/Thr genotype of Ala60Thr polymorphism in INSL3 may constitute a susceptibility factor for the development of CO. CI - Copyright (c) 2007 S. Karger AG, Basel. FAU - Yamazawa, Kazuki AU - Yamazawa K AD - Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan. FAU - Wada, Yuka AU - Wada Y FAU - Sasagawa, Isoji AU - Sasagawa I FAU - Aoki, Katsuya AU - Aoki K FAU - Ueoka, Katsuhiko AU - Ueoka K