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Updated: Apr 18, 2026

Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
Common genetic variants related to vitamin D status are not associated with esophageal squamous cell carcinoma risk
Jian-Bing Wang1, Sanford M Dawsey2, Jin-Hu Fan3
1Nutritional Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20850 MD, USA; Department of Cancer Epidemiology, Cancer Institute/Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100021 Beijing, China; Department of Epidemiology and Health Statistics, School of Public Health, Zhejiang University, 310058 Hangzhou, China.
Background:
Few studies have examined the association of common genetic variants related to vitamin D metabolism and signaling to esophageal squamous cell carcinoma (ESCC).
Methods:
We evaluated the association between 12 single nucleotide polymorphisms (SNPs) in four genes related to vitamin D levels and ESCC risk using data from a genome-wide association study. Participants were recruited from the Shanxi Upper Gastrointestinal Cancer Genetics Project and the Linxian Nutrition Intervention Trials, and included 1942 ESCC cases and 2111 controls. We used logistic models to estimate odds ratios (ORs) and 95% confidence intervals (CIs) for the SNP associations, after controlling for age and gender.
Results:
None of the 12 evaluated SNPs in the four vitamin D-related genes were significantly associated with risk of ESCC. The strongest associations were for rs3794060 (P=0.07) and rs12800438 (P=0.08) in the DHCR7/NADSYN1 gene. No association between vitamin D-related SNPs and risk of ESCC was observed in a genotype score analysis that included all 12 SNPs. ORs for quartiles 2, 3 and 4 of the genotype scores were 0.83 (95% CI: 0.68, 1.01), 1.02 (0.85, 1.21), and 1.08 (0.89, 1.30), respectively, with no evidence for a significant monotonic trend (P=0.120).
Conclusions:
Our results suggested that common genetic variants related to vitamin D levels are not associated with risk of ESCC in this Chinese population.
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