Novel UBE2B-associated polymorphisms in an azoospermic/oligozoospermic population

Huang, Ivan; Emery, Benjamin R.; Christensen, Greg L.; Griffin, James B.; Peterson, C. Matthew; Carrell, Douglas T.

doi:10.1111/j.1745-7262.2008.00386.x

Cited by 17 publications

(11 citation statements)

References 21 publications

(20 reference statements)

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Section: Genomic Biomarkersmentioning

confidence: 99%

“…A recent genome-wide association study of family size and birth rates among 269 men evaluating ~250,000 SNPs revealed 41 SNPs with strong association to infertility and nine SNPs related to reduced sperm quality and function (61). The study implicated the genes USP8, UBD, EPSTI1 , and LRRC32 in male infertility, highlighting potential biomarkers (61). Other genes with SNPs associated in male fertility include: PDE3A, EFCAB4B, COBL, ATP8A1, MASP1, PROK2 (62), AHRR (46, 47), MTHFR (58–60) and UBE2B , a homolog of the DNA repair gene rad6 in mice, which results in male infertility when knocked out (61).…”

Section: Genomic Biomarkersmentioning

confidence: 99%

See 1 more Smart Citation

The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility

Kovac

Pastuszak

Lamb

2013

Fertility and Sterility

218

158

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Despite the fact that male factors contribute to approximately 50% of all infertility, the mechanisms underlying their origin are unknown. Currently, clinicians rely primarily on semen analyses to predict male reproductive potential and chart treatment success. Even when invasive procedures are performed, the causes of male infertility frequently remain elusive. Recently, the advent of new technologies has spurred the search for novel male infertility biomarkers, and the detection of genes, proteins or metabolites unique to the infertile male holds much promise. The concept that a cost-effective, non-invasive and accurate set of biomarkers can be identified to diagnose male infertility is tantalizing. This review focuses on the various methodologies employed in the discovery of novel biomarkers along with their findings. Specific attention is paid to recent advances in the fields of genetics, proteomics and metabolomics.

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Section: Genomic Biomarkersmentioning

confidence: 99%

Section: Genomic Biomarkersmentioning

confidence: 99%

The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility

Kovac

Pastuszak

Lamb

2013

Fertility and Sterility

218

158

View full text Add to dashboard Cite

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“…Therefore, they proposed that UBE2B might be involved in sperm production in humans. However, Huang et al (2008) have demonstrated that the allelic frequency of g.-293G is 5.2% in infertile males of northern European descent and reported no statistically significant differences from the reference frequency (4.4%) published by the International HapMap Project (http://hapmap.ncbi.nlm.nih.gov/), although it is lower than the previously reported frequency of 20% from the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/).…”

Section: Resultsmentioning

confidence: 99%

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

Hu¹,

Wang²,

Yu³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length polymorphism analysis for SNPs in 312 fertile males and 388 infertile males in Northeast China. Taking advantage of the high degree of linkage disequilibrium among SNPs surrounding UBE2B (r 2 > 0.90), we selected 2 haplotype-tagging SNPs with a minor allele frequency of 5% or greater (rs17167484: g.-293T>G and rs3777373: g.20016A>G) that captured the majority of the genetic variations in a 40-kbp region of this gene. No significant differences UBE2B polymorphisms and male infertility between cases and controls were found in the allelic and genotype distribution of the 2 SNPs. However, the haplotype analysis for the 2 SNPs showed that the GA haplotype was significantly associated with a greater than 3-fold decreased risk of male infertility (P = 0.003). Because the frequency of the GA haplotype (1.1%) is relatively low in Chinese men, such a significant finding may occur by chance, but the results are still significant after multiple comparison adjustments (P = 0.012 after Bonferroni's correction). We conclude that the UBE2B polymorphisms g.-293T>G, g.20016A>G and g.9157A>G are not associated with male infertility, and the GA haplotype is likely a protective factor for male fertility in Northeast Chinese men.

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“…Further analysis, including promoter studies, have been conducted on human and mouse spermatogenesis. For example, polymorphisms in the human UBE2B gene are associated with the human azoospermic/oligozoospermic population [9,10]. It is suspected that more genes play critical roles in human spermatogenesis.…”

Section: Introductionmentioning

confidence: 99%

A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

Miyamoto¹,

Tsujimura²,

Miyagawa³

et al. 2009

Asian J Androl

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Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs: SNP1-SNP3) were detected in the patients with meiotic arrest. No significant differences in the genotype or allele frequencies of SNP1 and SNP2 were found between patients with meiotic arrest and the others. However, the frequency of the SNP3 allele was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 may play a critical role in human spermatogenesis, especially in meiosis.

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Novel UBE2B-associated polymorphisms in an azoospermic/oligozoospermic population

Cited by 17 publications

References 21 publications

The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility

The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

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