Primary nocturnal enuresis (PNE) is a common childhood problem. The incidence of PNE is approximately 10% of 7-year-old children. PNE make significant psychosocial distresses for both children and their parents and a child with PNE seems to have low confidence. Despite numerous studies on PNE, its etiology remains elusive. The etiology of PNE is multifactor, involving genetic influence, maturational delay, sleep disorder, psychological problem and decreased nighttime secretion of antidiuretic hormone.
Normal voiding might include the synchronized circadian rhythm in the secretion of arginine vasopressin (AVP) and functional maturation of the central nervous system (CNS), which reduces the child''s ability to inhibit bladder emptying at night. Our major concerns for PNE are the compromised vasopressin production and the balance of CNS transmitters. Single nucleotide polymorphisms (SNPs) are the most abundant types of DNA sequence variation in the human genome. The SNP marker provides a new way for the identification of complex gene-associated diseases such as PNE. We tried to use SNPs as biomarkers to search candidate genes and the pathogenesis of PNE.
This study is the first to search the 5HTR2A gene polymorphisms in children with PNE. It was determined that 5HTR2A gene polymorphism, a predominantly TT genotype, may be associated with non-mono-symptomatic NE in Taiwanese children. These findings confirm previous observation that the heterogenisity of NE and open a window for the future research to find the mechanisms of NE.
