Publication Name	World Journal of Gastrointestinal Oncology
Manuscript ID	123971
DOI	10.4251/wjgo.123971
Country	China

Category	Gastroenterology & Hepatology
Manuscript Type	Case Control Study
Article Title	Genotype-phenotype landscape of Sodium taurocholate cotransporting polypeptide deficiency in Yunnan Province, China: A five-year retrospective, multi-ethnic cohort study
Manuscript Source	Unsolicited Manuscript
All Author List	Mei-Fen Wang, Rui Chen, Juan Li, Zhi-Kuan Cun, Qiong Li, Hong-Chao Jiang and Ji-Wei Li
Funding Agency and Grant Number	Funding Agency Grant Number The “Famous Doctor” Special Project of Xingdian Talent Support Plan of Yunnan Province XDYC-YLWS-2023-0006 Kunming Spring City Plan High-Level Talent Training Project, Kunming Municipal Government “Spring City Famous Doctor” Special Project C2020120231 Kunming Medical Science And Technology Leading Talent Project 2022-SW（leader）-05 Kunming Medical University Affiliated Children's Hospital Medical Technology Center for Pediatric Liver Disease Diagnosis and Treatment 2024-SW(Tech)-04 Xingdian Talent Support Program for Medical and Health Talents Project XDYC-YLWS-2023-0004 Technical Innovation Talent Training Target Project 202305AD160058 Kunming medical science and technology academic leading talent project 2024-SW-14 Research Project of the Yunnan Provincial Clinical Medicine Center 2024YNLCYXZX0478
Corresponding Author	Ji-Wei Li, PhD, Department of Pathology, Affiliated Children's Hospital of Kunming Medical University (Kunming Children’s Hospital), No. 288 Qianxing Street, Kunming 650228, Yunnan Province, China. km_dc_lee@163.com
Key Words	Sodium taurocholate cotransporting polypeptide deficiency; SLC10A1 gene; Persistent hypercholanemia; Pediatric cholestasis; Genotype-phenotype correlation
Core Tip	This 5-year retrospective study of 125 pediatric patients with sodium taurocholate cotransporting polypeptide deficiency from Yunnan Province is the largest multi-ethnic cohort to date. The results reveals that the c.800C>T founder variant predominates across 12 ethnic groups, while 11 additional variants (four likely pathogenic, seven variants of uncertain significance) contribute to allelic heterogeneity. The biochemical trajectories demonstrate self-limiting hypercholanemia with age-dependent resolution, while sex-stratified analyses uncover genotype-linked elevations in aspartate aminotransferase in males and disturbances in vitamin E and iron levels in females. These findings provide an exploratory framework for genotype-informed monitoring in ethnically diverse populations, though causality and generalizability require prospective validation.
Citation	Wang MF, Chen R, Li J, Cun ZK, Li Q, Jiang HC, Li JW. Genotype-phenotype landscape of Sodium taurocholate cotransporting polypeptide deficiency in Yunnan Province, China: A five-year retrospective, multi-ethnic cohort study. World J Gastrointest Oncol 2026; In press DOI: https://doi.org/10.4251/wjgo.123971
PDF	123971-in-press.pdf

Received	2026-06-03 07:34
Peer-Review Started	2026-06-03 07:34
First Decision by Editorial Office Director
Return for Revision	2026-07-14 00:47
Revised	2026-08-05 14:47
Publication Fee Transferred
Second Decision by Editor	2026-09-24 02:42
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-09-24 08:51
Articles in Press	2026-09-24 08:51
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	1948-5204 (online)
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