Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.
Genotyping analysis was performed for Gly146Ala polymorphism in the gene for steroidogenic factor-1 (SF-1), which is known to reduce the transactivation function by approximately 20%, in 72 cryptorchid patients and 136 control males, revealing that the Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in the patients than in the control males. The results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the development of cryptorchidism (CO).
Wada
Yuka
Y
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
Okada
Michiyo
M
Fukami
Maki
M
Sasagawa
Isoji
I
Ogata
Tsutomu
T
D000293:Adolescent; D000409:Alanine; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005998:Glycine; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; D000409:Alanine; D005998:Glycine