Journal of Andrology Testis Workshop 2009
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Published-Ahead-of-Print May 28, 2009, DOI:10.2164/jandrol.109.007971

This Article
Right arrow Author Manuscript (PDF)
Right arrow All Versions of this Article:
30/6/711    most recent
Author Manuscript (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Aston, K. I.
Right arrow Articles by Carrell, D. T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Aston, K. I.
Right arrow Articles by Carrell, D. T.

Genome-wide Study of Single Nucleotide Polymorphisms Associated with Azoospermia and Severe Oligozoospermia

Kenneth I. Aston and Douglas T. Carrell *

* To whom correspondence should be addressed. E-mail: douglas.carrell{at}hsc.utah.edu.

Male infertility affects a large proportion of the population. In spite of the magnitude of the problem and the considerable research effort that has been made to understand its causes, a large proportion of male infertility cases remain idiopathic in nature. This pilot genome-wide association study employed genotyping microarray technology to interrogate over 370,000 single nucleotide polymorphisms (SNPs) in men with azoospermia, severe oligozoospermia, and normozoospermic controls in an effort to discover novel genetic variants significantly associated with male infertility. We found 20 SNPs significantly associated with azoospermia or oligozoospermia (P value for association of < 1 x 10-5). Using a gene-centric approach evaluating SNPs associated with genes of known fertility function, we found one additional SNP with a P value < 1 x 10-4. While additional studies with larger numbers of samples will be required to validate these results and to identify causal variants, this study represents an important first step in applying genome-wide approaches to identify the genetic causes of male infertility.


Key words: Infertility • Reproductive Genetics • azoospermia • mutation • oligozoospermia • single nucleotide polymorphism




This article has been cited by other articles:


Home page
 ReproductionHome page
L. Visser and S. Repping
Unravelling the genetics of spermatogenic failure
Reproduction, February 1, 2010; 139(2): 303 - 307.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
D. T. Carrell and S. S. Hammoud
The human sperm epigenome and its potential role in embryonic development
Mol. Hum. Reprod., January 1, 2010; 16(1): 37 - 47.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2009 by The American Society of Andrology.