2015
DOI: 10.1093/humrep/dev180
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Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

Abstract: This work was supported by R01HD060769 (the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD)), P20RR20173 (the National Center for Research Resources (NCRR), currently P20GM103464 from the National Institute of General Medical Sciences (NIGMS)), an Institute Development Fund to the Center for Applied Genomics at The Children's Hospital of Philadelphia, and Nemours Biomedical Research. The authors have no competing interests to declare.

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Cited by 22 publications
(32 citation statements)
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References 69 publications
(95 reference statements)
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“…cryptorchidism in the absence of other congenital anomalies). 197 In a GWAS of 844 boys with cryptorchidism and 2,718 controls, no individual SNPs reached a level of genome-wide significance. Pathway analysis, however, suggested that loci important in cyptoskeleton-dependent function may be of importance.…”
Section: Geneticsmentioning
confidence: 99%
See 1 more Smart Citation
“…cryptorchidism in the absence of other congenital anomalies). 197 In a GWAS of 844 boys with cryptorchidism and 2,718 controls, no individual SNPs reached a level of genome-wide significance. Pathway analysis, however, suggested that loci important in cyptoskeleton-dependent function may be of importance.…”
Section: Geneticsmentioning
confidence: 99%
“…The authors noted that their findings might reflect the fact that susceptibility to this disease is highly heterogeneous and possibly driven by environmental causes and/or rare genetic variants. 197 …”
Section: Geneticsmentioning
confidence: 99%
“…Using these bioinformatics resources in our previous study, we associated cryptorchidism-associated genomic variations with musclecontraction pathway (Cannistraci et al, 2013). Additionally, cytoskeleton-dependent molecular and cellular functions were found to be prevalent using pathway analysis of suggestive GWAS signals, and may implicate loci encoding cytoskeletal proteins that participate in androgen receptor signaling (Barthold et al, 2015).…”
Section: Discussionmentioning
confidence: 98%
“…It is possible that some of the 57 patients without any CNV detected in this study harbor RIT1 CNVs. On the other hand, recent evidence from breeding studies of a cryptorchid rat strain (Barthold et al ., ); and from association studies in both pigs (Elansary et al ., ) and man (Barthold et al ., ) have suggested that cryptorchidism is inherited as a polygenic trait, whit different variants contributing to susceptibility. Therefore, we suggest that the RAF1 microduplication detected in this study represents one of these variants.…”
Section: Discussionmentioning
confidence: 99%