Is Increased Cag Repeat Length in the Androgen Receptor Gene a Risk Factor for Male Subfertility?

Golde, R. van; Houwelingen, Kjeld van; Kiemeney, Lambertus A.; Kremer, J.A.M.; Tuerlings, J.H.A.M.; Schalken, Jack A.; Meuleman, E.J.H.

doi:10.1016/s0022-5347(01)69098-0

Cited by 41 publications

(16 citation statements)

References 27 publications

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“…The mean number of repeats in the fertile controls and infertile populations were similar (23.07 ± 2.32 and 23.30 ± 2.44, p ¼ 0.599). Previous European studies correspond with the findings presented here (Lundberg Giwercman et al, 1998;Hiort et al, 1999Hiort et al, , 2000Legius et al, 1999;Dadze et al, 2000;Rajpert-De Meyts et al, 2002;Van Gold et al, 2002). See Table 1 for a detailed summary of previously published data on CAG repeat numbers among infertile patients and controls.…”

Section: Discussionsupporting

confidence: 90%

“…The concurring populations include populations of Singaporean, Japanese and Australian origin (Tut et al, 1997;Dowsing et al, 1999;Komori et al, 1999;Yoshida et al, 1999;Mifsud et al, 2001;Patrizio et al, 2001). Most studies of European populations have not determined a link between CAG repeat length and depressed spermatogenesis (Lundberg Giwercman et al, 1998;Hiort et al, 1999;Dadze et al, 2000;Rajpert-De Meyts et al, 2002;Van Gold et al, 2002) although a small number have (Wallerand et al, 2001;Mengual et al, 2003). This study examined the proposed association in a population of 143 male of Irish origin of which 66 were suffering from depressed spermatogenesis.…”

Section: Discussionmentioning

confidence: 89%

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CAG repeat length in an infertile male population of Irish origin

et al. 2005

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The androgen receptor (AR) gene, located on the X chromosome, is an important regulator of human spermatogenesis. In the past decade, the link between the CAG polyglutamine tract, situated on exon one of the AR gene, and reduced spermatogenesis has become a controversial one. Alterations in the length of the CAG polyglutamine tract have been associated with prostate cancer at a reduced intrinsic length and neuromuscular diseases at a CAG repeat length of > or = 40. Minimal intermediate increases have been linked with depressed spermatogenesis in infertile males. Asian and Australian groups have published an association between increased CAG repeat length and reduced spermatogenesis while many European studies have found no such association. The aim of this study was to document the association between increased CAG repeat length and reduced spermatogenesis in a group of Irish infertile males and controls known to have fathered at least one child. The study employed the ABI 377 DNA sequencer to size the CAG repeat region of exon one of the AR gene in each group. Statistical analysis revealed no actual link between the length of the CAG tract and a reduction of spermatogenesis in a cohort of infertile patients (n = 66) of Irish ethnic origin when compared to a fertile control group (n = 77) (p = 0.599).

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 89%

CAG repeat length in an infertile male population of Irish origin

et al. 2005

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“…In elderly men with preserved spermatogenesis the CAG repeat of the AR gene showed nine alleles with a mean number of 22.76 Ϯ 3.11 (range [15][16][17][18][19][20][21][22][23][24][25][26][27]. In the subjects with arrested spermatogenesis, the CAG repeat showed eight alleles with a mean of 21.86 Ϯ 2.23 (range 18 -25) (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Contrasting with these investigations, some studies failed to observe any correlation between expansion of the AR CAG repeat size and impaired spermatogenesis (13)(14)(15)(16)(17). For example, Komori et al (13) compared 59 Japanese oligozoospermic infertile men and 36 fertile men and found no difference in the mean number of CAG between the infertile (21.2 Ϯ 4.2) and fertile (21.4 Ϯ 3.5) men.…”

Section: Discussionmentioning

confidence: 97%

“…For example, Komori et al (13) compared 59 Japanese oligozoospermic infertile men and 36 fertile men and found no difference in the mean number of CAG between the infertile (21.2 Ϯ 4.2) and fertile (21.4 Ϯ 3.5) men. Moreover, with a number of 14 and 15 CAG repeats, the incidence of infertily was significantly higher (PϽ.05) than that of fertility (13)(14)(15)(16)(17), suggesting that a reduction in AR CAG repeats in exon 1 is closely related to impaired spermatogenesis in Japanese men (13)(14)(15)(16)(17). From another report, however, it clearly appears that only CAG repeat lengths Ͼ28 contribute to impair sperm production and male infertility (18).…”

Section: Discussionmentioning

confidence: 99%

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Association between androgen receptor gene CAG trinucleotide repeat length and testicular histology in older men

Dakouane-Giudicelli

Legrand²,

Giudicelli

et al. 2006

Fertility and Sterility

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Analysis of the polymorphic CAG repeat length in the androgen receptor gene in patients with testicular germ cell cancer

Meyts¹,

Leffers²,

Daugaard³

et al. 2002

Intl Journal of Cancer

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Changes in the length of a polymorphic trinucleotide (CAG) repeat in the androgen receptor (AR) gene, which may lead to altered transactivation of the AR gene, have been implicated to play a role in the pathogenesis of several forms of endocrine cancer and certain reproductive disorders. Subjects with reproductive disorders that are associated with a relative deficiency of androgen function carry an increased risk for testicular cancer, therefore we have examined the (CAG)n in the AR gene in DNA isolated from peripheral blood cells of 102 patients diagnosed with testicular germ cell neoplasia and compared them with a control group of 110 healthy men with proven fertility. All patients and control subjects underwent comprehensive andrological examination that included reproductive hormone profiles and the analysis of the (CAG)n in the AR gene that was done by means of PCR and DNA sequencing. There was no difference in the distribution of (CAG)n between the subjects and controls, no association of (CAG)n and the tumor type and no association with severity of the disease. We conclude that the high risk of testicular germ cell cancer in the Danish population is not associated with the (CAG)n polymorphism in the AR gene.

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Is Increased Cag Repeat Length in the Androgen Receptor Gene a Risk Factor for Male Subfertility?

Cited by 41 publications

References 27 publications

CAG repeat length in an infertile male population of Irish origin

CAG repeat length in an infertile male population of Irish origin

Association between androgen receptor gene CAG trinucleotide repeat length and testicular histology in older men

Analysis of the polymorphic CAG repeat length in the androgen receptor gene in patients with testicular germ cell cancer

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