ID

45857

Description

Principal Investigator: Richard K. Wilson, PhD, The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: Azoospermia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001023 Spermatogenesis is a complex biological process that requires the coordination of thousands of genes. Perhaps because of the large number of genes involved, spermatogenic failure occurs frequently and affects approximately 1% of men. While environmental and genetic factors likely contribute to this disorder, it is thought that the majority of cases have an underlying genetic basis. The two most common genetic causes are deletions on the Y chromosome and cytogenetic abnormalities (/e.g./ Klinefelter syndrome, XXY), which each account for roughly 10-15% of cases of complete spermatogenic failure. Point mutations in several other genes have also been linked to spermatogenic failure, but their collective prevalence is very low. Thus, for approximately 70% of men with spermatogenic failure, the genetic cause remains unknown. We hypothesize that a disproportionate number of these remaining genetic variants reside on the sex chromosomes because they are hemizygous in males and contain a disproportionate number of genes expressed in the testis. To identify genes that are required for spermatogenesis, we have performed capture-based targeted sequencing in 301 men with azoospermia (complete absence of sperm) and 300 fertile controls. Our sequencing is focused on coding genes and conserved, non-coding sequences of the X and Y chromosomes. In addition, we have targeted ~497 autosomal genes that display exclusive or predominant expression in the testis. The total sequence space targeted is 21.3 Mb, and we require 70% of targets reach an average coverage of 20X.

Link

dbGaP study = phs001023

Keywords

Versions (1)
  1. 10/8/23 10/8/23 - Simon Heim
Copyright Holder

Richard K. Wilson, PhD, The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA

Uploaded on

October 8, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001023 Male Infertility: Genetics of Spermatogenic Failure

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Cases*
Description

*Cases*

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
*Inclusion criteria* - men with non-obstructive azoospermia (no sperm detected in semen and no physical obstruction of vas deferens).
Description

*Inclusion criteria* - men with non-obstructive azoospermia (no sperm detected in semen and no physical obstruction of vas deferens).

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C4021107
*Exclusion criteria* - presence of Y-chromosome deletion, abnormal karyotype, congenital abnormality of vas deferens or other obstruction, complicating medical history including cryptorchidism, cancer, hernia, mumps, or other suspected contributor to spermatogenic phenotype).
Description

*Exclusion criteria* - presence of Y-chromosome deletion, abnormal karyotype, congenital abnormality of vas deferens or other obstruction, complicating medical history including cryptorchidism, cancer, hernia, mumps, or other suspected contributor to spermatogenic phenotype).

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1507149
UMLS CUI [1,3]
C0476431
UMLS CUI [1,4]
C0266443
UMLS CUI [1,5]
C0262926
UMLS CUI [1,6]
C0010417
UMLS CUI [1,7]
C0006826
UMLS CUI [1,8]
C0019270
UMLS CUI [1,9]
C0026780
UMLS CUI [1,10]
C3553794
*Controls*
Description

*Controls*

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
*Inclusion criteria* - healthy men with normal sperm counts (>20 million per cc).
Description

*Inclusion criteria* - healthy men with normal sperm counts (>20 million per cc).

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C3898900
UMLS CUI [1,3]
C0086582
UMLS CUI [1,4]
C0853613
*Exclusion criteria* - abnormal karyotype.
Description

*Exclusion criteria* - abnormal karyotype.

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0476431
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
*Cases*
Item
*Cases*
boolean
C1706256 (UMLS CUI [1,1])
*Inclusion criteria* - men with non-obstructive azoospermia (no sperm detected in semen and no physical obstruction of vas deferens).
Item
*Inclusion criteria* - men with non-obstructive azoospermia (no sperm detected in semen and no physical obstruction of vas deferens).
boolean
C1512693 (UMLS CUI [1,1])
C4021107 (UMLS CUI [1,2])
*Exclusion criteria* - presence of Y-chromosome deletion, abnormal karyotype, congenital abnormality of vas deferens or other obstruction, complicating medical history including cryptorchidism, cancer, hernia, mumps, or other suspected contributor to spermatogenic phenotype).
Item
*Exclusion criteria* - presence of Y-chromosome deletion, abnormal karyotype, congenital abnormality of vas deferens or other obstruction, complicating medical history including cryptorchidism, cancer, hernia, mumps, or other suspected contributor to spermatogenic phenotype).
boolean
C0680251 (UMLS CUI [1,1])
C1507149 (UMLS CUI [1,2])
C0476431 (UMLS CUI [1,3])
C0266443 (UMLS CUI [1,4])
C0262926 (UMLS CUI [1,5])
C0010417 (UMLS CUI [1,6])
C0006826 (UMLS CUI [1,7])
C0019270 (UMLS CUI [1,8])
C0026780 (UMLS CUI [1,9])
C3553794 (UMLS CUI [1,10])
*Controls*
Item
*Controls*
boolean
C0009932 (UMLS CUI [1,1])
*Inclusion criteria* - healthy men with normal sperm counts (>20 million per cc).
Item
*Inclusion criteria* - healthy men with normal sperm counts (>20 million per cc).
boolean
C1512693 (UMLS CUI [1,1])
C3898900 (UMLS CUI [1,2])
C0086582 (UMLS CUI [1,3])
C0853613 (UMLS CUI [1,4])
*Exclusion criteria* - abnormal karyotype.
Item
*Exclusion criteria* - abnormal karyotype.
boolean
C0680251 (UMLS CUI [1,1])
C0476431 (UMLS CUI [1,2])
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