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

Kazuki Yamazawa, Yuka Wada, Isoji Sasagawa, Katsuya Aoki, Katsuhiko Ueoka, Tsutomu Ogata

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)73-76
Number of pages4
JournalHormone Research
Volume67
Issue number2
DOIs
Publication statusPublished - 2007 Feb

Fingerprint

Cryptorchidism
Insulin
Mutation
G-Protein-Coupled Receptors
Genotype
Testis
Digestion
Exons
Odds Ratio
High Pressure Liquid Chromatography
Confidence Intervals

Keywords

  • Cryptorchidism
  • INSL3
  • LGR8/GREAT
  • Mutation analysis
  • Polymorphisms
  • Susceptibility

ASJC Scopus subject areas

  • Endocrinology

Cite this

Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. / Yamazawa, Kazuki; Wada, Yuka; Sasagawa, Isoji; Aoki, Katsuya; Ueoka, Katsuhiko; Ogata, Tsutomu.

In: Hormone Research, Vol. 67, No. 2, 02.2007, p. 73-76.

Research output: Contribution to journalArticle

Yamazawa, K, Wada, Y, Sasagawa, I, Aoki, K, Ueoka, K & Ogata, T 2007, 'Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism', Hormone Research, vol. 67, no. 2, pp. 73-76. https://doi.org/10.1159/000096089
Yamazawa, Kazuki ; Wada, Yuka ; Sasagawa, Isoji ; Aoki, Katsuya ; Ueoka, Katsuhiko ; Ogata, Tsutomu. / Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. In: Hormone Research. 2007 ; Vol. 67, No. 2. pp. 73-76.
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N2 - 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.

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