Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.
Steroidogenic factor-1 (SF-1) regulates the transcription of multiple genes involved in the androgen biosynthesis, and SF-1 Gly146Ala polymorphism is known to reduce the transactivation function by approximately 20%. To examine whether the Gly146Ala polymorphism constitutes a susceptibility factor for the development of micropenis (MP), we analyzed this polymorphism in a total of 52 patients with micropenis (T-MP) consisting of 30 patients with severe MP below -2.5 SD (S-MP) and 22 patients with mild MP from -2.1 SD to -2.5 SD (M-MP), together with 115 control males. The Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in the S-MP patients than in the control males, whereas the allele and the genotype frequencies were comparable between the M-MP patients and the control males. The results suggest that the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of S-MP, and that M-MP can be regarded as a normal variation in terms of the polymorphism effect.
Wada
Yuka
Y
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo.
Okada
Michiyo
M
Hasegawa
Tomonobu
T
Ogata
Tsutomu
T
D000293:Adolescent; D000409:Alanine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities*; D011110:Polymorphism, Genetic; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012720:Severity of Illness Index; 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