Page 20 - L. Genetics and genomics

[L. Genetics and genomics-18]

Genetic variation in mitochondrial NADH-dehydrogenase

subunit 3 (ND3) is associated with susceptibility to gastric

cancer

Gang Min Hur¹, Jang Hee Hong¹˙²

¹Department of Pharmacology, Chungnam National University College of Medicine, Daejeon 35015, Republic of

Korea, ²Clinical Trials Center, Chungnam National University Hospital, Daejeon 35015, Republic of Korea

Several studies have been reported that mitochondrial DNA alterations are related with cancer development and
progression. In this study, we performed case-control association studies to evaluate the relevance between

mitochondrial NADH-dehydrogenase subunit 3 (ND3) gene polymorphisms and the risk of gastric cancer (GC) in
the Korean population. A case-control study was conducted with 377 GC patients and 363 controls. We genotyped

6 SNPs such as rs28358278, rs2853826, rs201397417, rs41467651, and rs28358275 in ND3 gene using direct
sequencing. χ2 tests were used to estimate the Hardy-Weinberg equilibrium of each SNP and the association

between the GC and control. Binary logistic regression was conducted to estimate the GC risk by odds ratios (OR)
and 95% confidence intervals (CI). Variant, rs41467651 was significantly associated with an increased gastric cancer

risk of GC and diffuse-type GC (OR = 2.08, P = 0.006 and OR = 2.64, P = 0.002, respectively). Our data suggests
that rs41467651 SNP of ND3 gene may influence ND3-mediated signaling pathway, particularly in the development

of diffuse-type GC in the Korean population.