Liu Yanqing, Fu Wen, Fu Kai, Zuo Xiaoyu, Jia Wei, Wang Ning, Zhang Yan, Liu Guochang, Deng Fuming
Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Department of Urology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Front Pediatr. 2022 Mar 21;10:842519. doi: 10.3389/fped.2022.842519. eCollection 2022.
Hypospadias is one of the most common congenital external genital malformations, which is characterized by abnormal urethral meatus. However, the etiology remains to be incompletely understood. is a gene that encodes a protein, which catalyzes the synthesis of quinolinic acid, and has been identified as a risk gene for hypospadias. Thus, this study was conducted to elaborate the association between gene polymorphism rs3816183 T>C and hypospadias in the largest hypospadias cohort from Asia, including 577 patients and 654 healthy controls in China. The strength of interrelation was evaluated using 95% confidence intervals (CIs) and odds ratios (ORs). Based on the stratified analysis of hypospadias subtypes, it was found that the risk allele rs386183[T] enhances the susceptibility for hypospadias among patients with anterior/middle hypospadias subtypes (adjusted OR = 1.31, 95% CI = 1.05-1.64, = 0.017). Enhanced risk of hypospadias in the entirety could not be demonstrated (OR = 1.20, 95% CI = 1.00-1.47, = 0.054). In summary, our study found that the rs3816183[T] polymorphism is associated with increased risk of anterior/middle hypospadias among Southern Han Chinese children. The mechanisms by which the variations in the gene require further research.
尿道下裂是最常见的先天性外生殖器畸形之一，其特征为尿道口异常。然而，其病因仍未完全明确。[基因名称]是一个编码蛋白质的基因，该蛋白质催化喹啉酸的合成，并且已被确定为尿道下裂的一个风险基因。因此，本研究在中国最大的尿道下裂队列（包括577例患者和654例健康对照）中进行，以阐述[基因名称]基因多态性rs3816183 T>C与尿道下裂之间的关联。使用95%置信区间（CI）和比值比（OR）评估关联强度。基于尿道下裂亚型的分层分析，发现风险等位基因rs386183[T]增加了前/中段尿道下裂亚型患者患尿道下裂的易感性（校正OR = 1.31，95%CI = 1.〇5 - 1.64，P = 〇.〇17)。未证实整体上尿道下裂风险增加（OR = 1.2〇，95%CI = 1.〇〇 - 1.47，P = 〇.〇54)。总之，我们的研究发现rs3816183[T]多态性与中国南方汉族儿童前/中段尿道下裂风险增加相关。[基因名称]基因变异的机制需要进一步研究。
