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[Relationship between dopamine D4 receptor gene polymorphisms and primary nocturnal enuresis].

Authors: Dai, Xiao-Mei  Ma, Hong-Wei  Lu, Yao  Pan, Xue-Xia 
Citation: Dai XM, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2008 Oct;10(5):607-10.
Pubmed: (View Article at PubMed) PMID:18947481

OBJECTIVE: To study polymorphisms of dopamine D4 receptor (DRD4) in children with primary nocturnal enuresis (PNE) and explore the relationship between DRD4 gene polymorphisms and PNE.
METHODS: Genomic DNA was isolated from leukocytes in 86 unrelated children with PNE and in 100 healthy unrelated children (controls). Polymorphisms of DRD4-1240L/S, -616C/G and -521C/T were genotyped by allele-specific primer PCR.
RESULTS: There were significant differences in allele frequencies (x2=8.13, P<0.05) and genotypes frequencies (x2=6.23, P<0.05) of DRD4-616C/G between PNE patients and healthy controls. The frequency of haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T in PNE patients was statistically higher than that in healthy controls (x2=5.88, P<0.05).
CONCLUSIONS: The change of C to G of DRD4-616 may affect the induction and transcription of DRD4 gene. The haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T may synergistically inhibit the transcription activity of DRD4 gene. This might lead to a reduction of DRD4 protein expression and cause nocturnal enuresis.


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RGD Object Information
RGD ID: 7248549
Created: 2013-08-07
Species: All species
Last Modified: 2016-12-30
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.