PMID- 17028442
OWN - NLM
STAT- MEDLINE
DCOM- 20070327
LR  - 20111117
IS  - 0301-0163 (Print)
IS  - 0301-0163 (Linking)
VI  - 67
IP  - 2
DP  - 2007
TI  - Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese 
      patients with cryptorchidism.
PG  - 73-6
AB  - 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
FAU - Ogata, Tsutomu
AU  - Ogata T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20061006
PL  - Switzerland
TA  - Horm Res
JT  - Hormone research
JID - 0366126
RN  - 0 (Insulin)
RN  - 0 (Leydig insulin-like protein)
RN  - 0 (Proteins)
RN  - 0 (RXFP2 protein, human)
RN  - 0 (Receptors, G-Protein-Coupled)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Cryptorchidism/*genetics
MH  - Humans
MH  - Infant
MH  - Insulin/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - *Polymorphism, Genetic
MH  - Proteins/*genetics
MH  - Receptors, G-Protein-Coupled/*genetics
EDAT- 2006/10/10 09:00
MHDA- 2007/03/28 09:00
CRDT- 2006/10/10 09:00
PHST- 2006/05/11 00:00 [received]
PHST- 2006/08/09 00:00 [accepted]
PHST- 2006/10/10 09:00 [pubmed]
PHST- 2007/03/28 09:00 [medline]
PHST- 2006/10/10 09:00 [entrez]
AID - 96089 [pii]
AID - 10.1159/000096089 [doi]
PST - ppublish
SO  - Horm Res. 2007;67(2):73-6. doi: 10.1159/000096089. Epub 2006 Oct 6.