RGD Reference Report - Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. - Rat Genome Database

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Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene.

Authors: Aschim, EL  Nordenskjold, A  Giwercman, A  Lundin, KB  Ruhayel, Y  Haugen, TB  Grotmol, T  Giwercman, YL 
Citation: Aschim EL, etal., J Clin Endocrinol Metab. 2004 Oct;89(10):5105-9.
RGD ID: 1578685
Pubmed: PMID:15472213   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2004-0293   (Journal Full-text)

Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association between these polymorphisms and mentioned malformations. Genotyping was performed by direct sequencing of DNA from patients diagnosed with hypospadias (n = 51) and cryptorchidism (n = 23) and controls (n = 210). The subjects with hypospadias were divided into subgroups of glanular, penile, and penoscrotal hypospadias. Median GGN lengths were significantly higher (24 vs. 23) among both subjects with cryptorchidism, compared with controls (P = 0.001), and those with penile hypospadias, compared with either controls (P = 0.003) or glanular and penoscrotal hypospadias combined (P = 0.018). The frequency of cases with GGN 24 or more vs. GGN = 23, differed significantly among those with cryptorchidism (65/35%), compared with controls (31/54%) (P = 0.012), and among subjects with penile hypospadias (69/31%), compared with either controls (P = 0.035) or glanular or penoscrotal hypospadias combined (32/55%) (P = 0.056). There were no significant differences in CAG lengths between the cases and controls. Our findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ARHumancryptorchidism  IAGP  RGD 
ArRatcryptorchidism  ISOAR (Homo sapiens) RGD 
ArMousecryptorchidism  ISOAR (Homo sapiens) RGD 
ARHumanhypospadias  IAGP  RGD 
ArRathypospadias  ISOAR (Homo sapiens) RGD 
ArMousehypospadias  ISOAR (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ar  (androgen receptor)

Genes (Mus musculus)
Ar  (androgen receptor)

Genes (Homo sapiens)
AR  (androgen receptor)

Additional Information