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Choline Dehydrogenase Polymorphism rs12676 Is a Functional Variation and Is Associated with Changes in Human Sperm Cell Function

Overview of attention for article published in PLOS ONE, April 2012
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Title
Choline Dehydrogenase Polymorphism rs12676 Is a Functional Variation and Is Associated with Changes in Human Sperm Cell Function
Published in
PLOS ONE, April 2012
DOI 10.1371/journal.pone.0036047
Pubmed ID
Authors

Amy R. Johnson, Sai Lao, Tongwen Wang, Joseph A. Galanko, Steven H. Zeisel

Abstract

Approximately 15% of couples are affected by infertility and up to half of these cases arise from male factor infertility. Unidentified genetic aberrations such as chromosomal deletions, translocations and single nucleotide polymorphisms (SNPs) may be the underlying cause of many cases of idiopathic male infertility. Deletion of the choline dehydrogenase (Chdh) gene in mice results in decreased male fertility due to diminished sperm motility; sperm from Chdh(-/-) males have decreased ATP concentrations likely stemming from abnormal sperm mitochondrial morphology and function in these cells. Several SNPs have been identified in the human CHDH gene that may result in altered CHDH enzymatic activity. rs12676 (G233T), a non-synonymous SNP located in the CHDH coding region, is associated with increased susceptibility to dietary choline deficiency and risk of breast cancer. We now report evidence that this SNP is also associated with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm. Sperm produced by men who are GT or TT for rs12676 have 40% and 73% lower ATP concentrations, respectively, in their sperm. rs12676 is associated with decreased CHDH protein in sperm and hepatocytes. A second SNP located in the coding region of IL17BR, rs1025689, is linked to altered sperm motility characteristics and changes in choline metabolite concentrations in sperm.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 25%
Student > Ph. D. Student 5 16%
Student > Master 5 16%
Student > Doctoral Student 3 9%
Student > Bachelor 3 9%
Other 7 22%
Unknown 1 3%
Readers by discipline Count As %
Agricultural and Biological Sciences 14 44%
Biochemistry, Genetics and Molecular Biology 6 19%
Medicine and Dentistry 6 19%
Psychology 1 3%
Arts and Humanities 1 3%
Other 0 0%
Unknown 4 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 July 2022.
All research outputs
#21,067,267
of 25,874,560 outputs
Outputs from PLOS ONE
#185,683
of 225,659 outputs
Outputs of similar age
#138,564
of 176,453 outputs
Outputs of similar age from PLOS ONE
#2,910
of 3,707 outputs
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