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CAG repeat length in an infertile male population of Irish origin

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Abstract

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 ≥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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Abbreviations

AR:

androgen receptor

DBD:

DNA binding domain

FSH:

follicle stimulating hormone

ICSI:

intracytoplasmic sperm injection

LBD:

ligand binding domain

LH:

luteinizing hormone

MART:

medically assisted reproductive technology

SBMA:

spinal and bulbar muscular atrophy

SD:

standard deviation

TAD:

transactivational domain

UCHG:

University College Hospital Galway

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Authors and Affiliations

  1. National Diagnostics Centre, National University of Ireland, Galway

    R. Lavery, J. A. Houghton, M. Glennon & M. Maher

  2. Fertility Unit, Department of Obstetrics & Gynaecology, University College Hospital, Galway

    A. Nolan & D. Egan

  3. Cytogenetics Unit, Department of Microbiology, National University of Ireland, Galway, Ireland

    R. Lavery & J. A. Houghton

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  1. R. Lavery
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  2. J. A. Houghton
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  3. A. Nolan
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  4. M. Glennon
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  6. M. Maher
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Correspondence to R. Lavery.

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Lavery, R., Houghton, J.A., Nolan, A. et al. CAG repeat length in an infertile male population of Irish origin. Genetica 123, 295–302 (2005). https://doi.org/10.1007/s10709-004-5091-8

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