J Gastric Cancer.  2020 Jun;20(2):127-138. 10.5230/jgc.2020.20.e11.

Association between the MUC1 rs4072037 Polymorphism and Risk of Gastric Cancer and Clinical Outcomes

• Kim BS
• Lee I
• Yook JH
• Song K
• Kim BS

• KMID: 2503595
• DOI: http://doi.org/10.5230/jgc.2020.20.e11

Abstract

Purpose
Mucin 1 (MUC1) was identified as a gastric cancer (GC) susceptibility gene by genome-wide association studies in Asians and candidate gene studies in Europeans. This study aimed to investigate the association between the MUC1 rs4072037 polymorphism and GC in terms of the Lauren classification and long-term clinical outcomes.
Materials and Methods
A total of 803 patients with GC and 816 unrelated healthy controls were enrolled in the study. The association between the MUC1 rs4072037 variant and GC histological types and clinical outcomes, including tumor recurrence and prognosis was investigated.
Results
The major A allele of rs4072037 was associated with increased GC risk (P<0.05). In subtype analysis, the association was most significant for diffuse-type GC (P<0.05) and in a dominant model (P<0.05), whereas there was no association with intestinal-type GC (P>0.05). Cox proportional hazards analysis revealed the heterozygote AG rs4072037 allele as an independent risk factor influencing tumor recurrence and disease-related death in diffuse-type GC (P<0.05). but not in intestinal-type GC (P>0.05).
Conclusions
The exonic single nucleotide polymorphism rs4072037 in MUC1 was associated with diffuse-type GC and was an independent risk factor influencing tumor recurrence and disease-related death in diffuse-type GC.

Keyword

Single nucleotide polymorphism; Gastric cancer; Histologic type