Abstract:
:Cryptorchidism is the most common congenital anomaly in male children. Its aetiology remains unknown in the majority of cases. Because HOXA11 plays a vital role in regulating testicular descent, genetic variants in HOXA11 genes may contribute to the risk of cryptorchidism. In this study, mutation analysis was performed on the HOXA11 gene in a cohort of 89 patients with cryptorchidism. Furthermore, an association analysis of the HOXA11 tag single nucleotide polymorphism rs6461992 was performed in 168 patients with unilateral cryptorchidism and 193 controls. No pathogenic mutations were found. A significant difference in genotype and allele distribution was detected between cases and controls (p = .029 and .022 respectively). These results suggest that mutations in the coding sequence of HOXA11 might not be a common cause of cryptorchidism, while common polymorphisms in the HOXA11 gene might contribute to the risk of developing unilateral cryptorchidism.
journal_name
Andrologiajournal_title
Andrologiaauthors
Lu P,Wang Y,Wang F,Huang J,Zeng Y,He D,Huang H,Cheng Zdoi
10.1111/and.12790subject
Has Abstractpub_date
2018-02-01 00:00:00issue
1eissn
0303-4569issn
1439-0272journal_volume
50pub_type
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