{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T00:03:40Z","timestamp":1768003420988,"version":"3.49.0"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010256","name":"Guangzhou Municipal Science and Technology Project","doi-asserted-by":"publisher","award":["202102010238"],"award-info":[{"award-number":["202102010238"]}],"id":[{"id":"10.13039\/501100010256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018479","name":"Guangzhou Institute of Pediatrics, Guangzhou Women and Childrens Medical Center","doi-asserted-by":"publisher","award":["0190026"],"award-info":[{"award-number":["0190026"]}],"id":[{"id":"10.13039\/100018479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>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. <jats:italic>HAAO<\/jats:italic> 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 <jats:italic>HAAO<\/jats:italic> gene polymorphism rs3816183 T&amp;gt;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 <jats:italic>HAAO<\/jats:italic> risk allele rs386183[T] enhances the susceptibility for hypospadias among patients with anterior\/middle hypospadias subtypes (adjusted OR = 1.31, 95% CI = 1.05\u20131.64, <jats:italic>p<\/jats:italic> = 0.017). Enhanced risk of hypospadias in the entirety could not be demonstrated (OR = 1.20, 95% CI = 1.00\u20131.47, <jats:italic>p<\/jats:italic> = 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 <jats:italic>HAAO<\/jats:italic> gene require further research.<\/jats:p>","DOI":"10.3389\/fped.2022.842519","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T16:47:46Z","timestamp":1647881266000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["HAAO rs3816183 Polymorphisms [T] Increase Anterior\/Middle Hypospadias Risk in Southern Han Chinese Population"],"prefix":"10.3389","volume":"10","author":[{"given":"Yanqing","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyu","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Jia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guochang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuming","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1002\/bdra.23021","article-title":"Environmental 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