Ethnic genomic differences in esophageal squamous cell carcinoma - Whole-exome sequencing of Han and Kazakh populations in China

Sep 28, 2026

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Esophageal squamous cell carcinoma (ESCC) is a cancer with poor prognosis, shaped by distinct geographic distribution and family clustering. Whole-exome sequencing was used to test whether ethnic differences between Han and Kazakh populations drive molecular variations in 299 ESCC patients. Sequencing revealed later onset in Kazakh patients, slightly higher tumor mutation burden, and threefold higher mutation frequencies of GIGYF1, CACNA1D, and ACOT11 in Kazakhs. APOBEC-related signatures and SBS6 patterns further differentiated cohorts, linking genomics to survival and informing potential clinical treatment guidance.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages17

Reading Time43 min

AccessFree to download

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| W | J | G | World Journal of
Gastroenterology | | --- | --- | --- | --- | Submit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Gastroenterol 2025 December 14; 31(46): 112664 DOI: 10.3748/wjg.v31.i46.112664 ISSN 1007-9327 (print) ISSN 2219-2840 (online) ORIGINAL ARTICLE Basic Study Ethnic genomic differences in esophageal squamous cell carcinoma: Whole-exome sequencing of Han and Kazakh populations in China Meng-Xia Wei, Ling-Ling Lei, Rui-Hua Xu, Yong-Xuan Liu, Ran Wang, Wen-Li Han, Zong-Min Fan, Fan-Kai Xiao, Ilyar Sheyhidin, Lei Ma, Jian-Wei Ku, Ming-Zhu Yin, Ai-Fang Ji, Qi-De Bao, She-Gan Gao, Xue-Na Han, Xin-Min Li, Pei-Nan Chen, Xue-Ke Zhao, Xin Song, Li-Dong Wang Specialty type: Gastroenterology and hepatology Provenance and peer review: Unsolicited article; Externally peer reviewed. Peer-review model: Single blind Peer-review report’s classification Scientific Quality: Grade B, Grade B, Grade C Novelty: Grade B, Grade B, Grade B Creativity or Innovation: Grade B, Grade B, Grade B Scientific Significance: Grade B, Grade B, Grade B P-Reviewer: Chen ZJ, PhD, Professor, China; Zhao XD, PhD, Associate Professor, China Received: August 4, 2025 Revised: September 17, 2025 Accepted: November 3, 2025 Published online: December 14, 2025 Processing time: 130 Days and 5.4 Hours Meng-Xia Wei, Ling-Ling Lei, Rui-Hua Xu, Yong-Xuan Liu, Ran Wang, Wen-Li Han, Zong-Min Fan, Fan-Kai Xiao, Xue-Na Han, Xue-Ke Zhao, Xin Song, Li-Dong Wang, Henan Key Laboratory for Esophageal Cancer Research and National Key Laboratory of Metabolic Dysregulation and Esophageal Cancer Prevention and Treatment, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan Province, China Yong-Xuan Liu, Henan Key Laboratory of Cancer Epigenetic, Henan Key Laboratory of Microbiome and Esophageal Cancer Prevention and Treatment, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang 471003, Henan Province, China Ilyar Sheyhidin, Department of Thoracic Surgery and Medical Research Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang Uygur Autonomous Region, China Lei Ma, Tumor Laboratory, The First People’s Hospital of Nanyang, Nanyang 473000, Henan Province, China Jian-Wei Ku, Department of Gastroenterology, The Second Affiliated Hospital of Nanyang Medical College, Nanyang 473000, Henan Province, China Ming-Zhu Yin, Clinical Research Center, Clinical Pathology Center, Cancer Early Detection and Treatment Center and Translational Medicine Research Center, Chongqing University Three Gorges Hospital, Chongqing University, Chongqing 400030, China Ai-Fang Ji, Department of Clinical Laboratory, Heping Hospital Affiliated to Changzhi Medical College, Changzhi 046000, Shanxi Province, China Qi-De Bao, Department of Oncology, Anyan District Hospital, Anyang 455000, Henan Province, China She-Gan Gao, Department of Oncology, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang 471003, Henan Province, China Xin-Min Li, Department of Pathology, The Maternal and Child Health Care Hospital of Zhengzhou, Zhengzhou 450052, Henan Province, China Pei-Nan Chen, Department of Thoracic Surgery, The Affiliated Cancer Hospital, Zhengzhou University, Henan Cancer Hospital, Zhengzhou 450008, Henan Province, China WJG [https://www.wjgnet.com](https://www.wjgnet.com) 1 December 14, 2025 Volume 31 Issue 46 Wei MX et al. ESCC genomics: Han vs Kazakh Corresponding author: Li-Dong Wang, MD, Professor, Henan Key Laboratory for Esophageal Cancer Research and National Key Laboratory of Metabolic Dysregulation and Esophageal Cancer Prevention and Treatment, The First Affiliated Hospital of Zhengzhou University, No. 40 Daxue Road, Zhengzhou 450052, Henan Province, [China.](China. ldwang2007@126.com)[ ldwang2007@126.com](China. ldwang2007@126.com) Abstract BACKGROUND

FAQs

What is the study objective regarding Han and Kazakh populations?

To determine whether ethnic differences (Han vs Kazakh) cause molecular variations in ESCC patients through genomic sequencing of 299 samples.

What genomic differences were observed between Kazakh and Han ESCC patients?

Kazakh patients showed a later age of onset, a slightly higher tumor mutation burden, and about threefold higher mutation frequencies for GIGYF1, CACNA1D, and ACOT11 compared with Han patients.

How do APOBEC-associated signatures relate to mutation burden and survival?

Among Han patients, APOBEC-enriched tumors had a significantly higher mutation load. Patients lacking the APOBEC signature demonstrated superior survival probability compared with those in the APOBEC-enriched group.

Sep 28, 2026

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