Evidence map›Paper›PMID 40335670›Full record

ArticleWorld journal of urology2025

X-chromosome association study reveals genetic susceptibility loci of hypospadias in southern Chinese population.

Yanqing Liu, Binyao Li, Fuming Deng, Xinying Zhao, Zhihai Liu, Jinglu Zhao, Wen Fu, Yan Zhang, Xiaoyu Zuo

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Article in World journal of urology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

9 authors.

Yanqing Liu *Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China.
Binyao Li *Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China.
Fuming DengDepartment of Pediatric Urology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
Xinying ZhaoGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China.
Zhihai LiuGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China.
Jinglu ZhaoGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China.
Wen FuDepartment of Pediatric Urology, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
Yan ZhangGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China. yannizy@gmail.com.
Xiaoyu ZuoGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, 9th Jinsui Road, Guangzhou, 510623, China. zuoxiaoyu@foxmail.com.

Funding

National Natural Science Foundation of China 81970450National Natural Science Foundation of China 82200742
6 · The paper itself

Abstract

purposeX-chromosome variants contribute significantly to hypospadias risk but have not been fully elucidated in the Chinese population. Here we aim to assess how X-chromosome variants contribute to hypospadias susceptibility in the Chinese population.

methodsWe recruited 1,073 boys with hypospadias and 5,150 controls in a southern Chinese population. Single-variant and gene/pathway-based association analyses were conducted for the distal and proximal hypospadias. Haplotype analysis was performed on top susceptibility genes. Additionally, we performed a multi-ancestral comparison between the East Asian and European populations.

resultsWe performed an X-chromosome-wide association study on 987 patients and 4,761 controls that met quality control standards. We confirmed DGKK variants as multi-ancestral susceptibility loci for distal hypospadias (lead SNP: rs5961181, P = 1.82 × 10

conclusionOur findings highlight the importance of X chromosome variants in hypospadias etiology and reveal subtype- and population-specific genetic architecture. Our results improve the understanding of genetic susceptibility for hypospadias risk and provide insights into risk prediction and personalized prevention strategies in hypospadias management.

Indexed as

Chromosomes, Human, XGenetic Predisposition to DiseaseHypospadiasCase-Control StudiesChildChild, PreschoolChinaEast Asian PeopleGenetic LociHumansMalePolymorphism, Single NucleotideGenetic susceptibilityHypospadiasMulti-ancestral analysisSingle nucleotide polymorphismX-chromosome

Identifiers

PMID40335670

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