Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Xq28 Variants as Novel Male-Specific Susceptibility Factors for Hirschsprung Disease.

The Journal of surgical research - 1 Feb 2026

Xie Xiaoli, Zuo Xiaoyu, He Qiuming, Zhong Wei, Yang Liucheng

Abstract excerpt

INTRODUCTION: Hirschsprung's disease (HSCR) is a complex congenital digestive tract disease affected by multiple genes. Despite the identification of >20 risk loci, no susceptibility variants map to sex chromosomes-a striking gap given the 4- to 6-fold male predominance in short-segment HSCR. This study investigates the contribution of X-chromosomal variation to HSCR pathogenesis. METHODS: We conducted a large...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Case-Control Studies
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Hirschsprung Disease

Share to Interleukin-1 Receptor-Associated Kinases

Share to Polymorphism, Single Nucleotide

Share to Sex Factors

Source

Identifiers

PMID: 41534244
DOI: 10.1016/j.jss.2025.12.017

Genes

IRAK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Xq28 Variants as Novel Male-Specific Susceptibility Factors for Hirschsprung Disease.PMID 41534244Read ↗

Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.Semantic proximity Read ↗

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.Semantic proximity Read ↗

miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.Semantic proximity Read ↗

miR-938rs2505901 T>C polymorphism increases Hirschsprung disease risk: a case-control study of Chinese children.Semantic proximity Read ↗

Population Differences in the Epidemiology, Phenotype, and Genetics of Hirschsprung Disease in the United StatesSemantic proximity Read ↗

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.Semantic proximity Read ↗

The Role of <i>de novo</i> and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of PatientsSemantic proximity Read ↗

Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese.Semantic proximity Read ↗

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Semantic proximity Read ↗

X Chromosome-wide Association Study Identifies a Susceptibility Locus for Inflammatory Bowel Disease in Koreans.Semantic proximity Read ↗

Multiple, independent, common variants overlapping known and putative gut enhancers at <i>RET</i> , <i>SEMA3</i> and <i>NRG1</i> underlie Hirschsprung disease risk in European ancestry subjectsSemantic proximity Read ↗

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.