[Single nucleotide polymorphisms of the DGKK gene and hypospadias in Chinese children].

Abstract

OBJECTIVE:

To investigate the role of single nucleotide polymorphisms of the gene of diacylglycerol kinase κ (DGKK) in hypospadias in Chinese children.

METHODS:

We performed direct sequencing on 2 hypospadias-related candidate single nucleotide polymorphisms of the DGKK gene (rs1934179 and rs7063116, never previously reported in the Chinese population) from 300 children with sporadic hypospadias and 200 healthy controls, and compared the results between the two groups.

RESULTS:

The mutation frequencies of rs1934179 and rs7063116 were 5.0% (15/300) and 5.67% (17/300) respectively in the hypospadias patients, significantly higher than 1.5% (3/200) and 2.0% (4/200) in the normal controls (P <0.05). The mutation frequencies of rs1934179 and rs7063116 in the cases of distal and middle hypospadias were also remarkably higher (6.5%, [13/200] and 7.5% [15/200], P <0.05), but those in the proximal cases (both 2.0% [2/100]) showed no statistically significant difference from the control (P >0.05).

CONCLUSION:

The polymorphisms of the DGKK gene may be associated with hypospadias, particularly distal and middle hypospadias, in Chinese children.

• Authors: Li-kai Zhuang, Min Wu, Wei-jing Ye, Yi-dong Liu
• Journal: Zhonghua nan ke xue = National journal of andrology (Zhonghua Nan Ke Xue) Vol. 20 Issue 11 Pg. 991-4 (Nov 2014) ISSN: 1009-3591 [Print] China
• PMID: 25577833 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Diacylglycerol Kinase

Topics

• Asian People
• Case-Control Studies
• Child
• China
• Diacylglycerol Kinase (genetics)
• Humans
• Hypospadias (enzymology, genetics)
• Male
• Polymorphism, Single Nucleotide