Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men.
BACKGROUND
We investigated the androgen receptor gene GGN polymorphism and its relation to male infertility and receptor function.


METHODS
Ninety-nine infertile patients with sperm counts < or = 5 x 10(6)/ml were screened for karyotypic abnormalities and Y-chromosome microdeletions. The GGN and CAG repeats were sequenced in those without genetic abnormalities and in 223 controls.


RESULTS
Five men (5.1%) carried Y-chromosome microdeletions and five had abnormal karyotypes. Neither the distributions of GGN nor of CAG differed significantly between patients and controls. However, the < 21 CAG and GGN = 23 combination of repeats occurred more frequently in the controls (16%) compared to the entire group of patients (4%; P = 0.003) and to the subgroup of 54 patients with idiopathic infertility (4%; P = 0.02). Testicular volume and CAG lengths were higher (P = 0.04 and 0.002 respectively) among the patients with GGN = 23 compared to GGN = 24. The odds ratio (OR) of having low prostatic secretory function was higher among patients with GGN = 24 than those with GGN = 23 (OR: 3.5; 95% CI: 1.1-11.7; P = 0.04).


CONCLUSIONS
The < 21 CAG and GGN = 23 combination of repeats may confer a lower risk of infertility to the carriers. Androgen sensitivity may be higher among carriers of the GGN = 23 allele compared to the GGN = 24 allele.
Ruhayel
Yasir
Y
Fertility Centre, Scanian Andrology Centre, Malmö, Sweden. yasir.ruhayel@kir.mas.lu.se
Lundin
Kristina
K
Giwercman
Yvonne
Y
Halldén
Christer
C
Willén
Marianne
M
Giwercman
Aleksander
A
D000328:Adult; D000483:Alleles; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics; D015331:Cohort Studies; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D009845:Oligospermia / Q000235:genetics*; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D012044:Regression Analysis; D013548:Sweden; D018911:Trinucleotide Repeats
D011944:Receptors, Androgen