Association analysis of ERBB2 amplicon genetic polymorphisms and STARD3 expression with risk of gastric cancer in the Chinese population |
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Authors: | Yue Qiu Zuo-Yang Zhang Wei-Dong Du Lei Ye Song Xu Xian-Bo Zuo Fu-Sheng Zhou Gang Chen Xue-Ling Ma Marion E Schneider Hong-Zhen Xia Yuan Zhou Ji-Feng Wu Xu Yuan-Hong Xue-Jun Zhang |
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Institution: | 1. Department of Biology, School of Life Sciences, Anhui Medical University, Hefei 230032, China;2. Department of Pathology, Anhui Medical University, Hefei 230032, China;3. State Key Laboratory & Incubation Base of Dermatology of Ministry of National Science and Technology, Anhui Medical University, Hefei 230032, China;4. Sektion Experimentelle Anaesthesiologie, Universitaetsklinikum Ulm, Ulm 89081, Germany;5. MVZ, ACURA Kliniken, Baden-Baden 76530, Germany;6. Clinical Laboratory, the First Affiliated Hospital, Anhui Medical University, Hefei 230032, China |
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Abstract: | The purpose of this study was to investigate whether risk of gastric cancer (GC) was associated with single nucleotide polymorphisms (SNPs) in a gene cluster on the chromosome 17q12-q21 (ERBB2 amplicon) in the Chinese Han population. We detected twenty-six SNPs in this gene cluster containing steroidogenic acute regulatory-related lipid transfer domain containing 3 (STARD3), protein phosphatase 1 regulatory subunit 1B (PPP1R1B/DARPP32), titin-cap (TCAP), per1-like domain containing 1(PERLD1/CAB2), human epidermal growth factor receptor-2 (ERBB2/HER2), zinc-finger protein subfamily 1A 3 (ZNFN1A3/IKZF3) and DNA topoisomerase 2-alpha (TOP2A) genes in 311 patients with GC and in 425 controls by Sequenom. We found no associations between genetic variations and GC risk. However, haplotype analysis implied that the haplotype CCCT of STARD3 (rs9972882, rs881844, rs11869286 and rs1877031) conferred a protective effect on the susceptibility to GC (P = 0.043, odds ratio OR] = 0.805, 95% confidence intervals 95% CI] = 0.643–0.992). The STARD3 rs1877031 TC genotype endued histogenesis of gastric mucinous adenocarcinoma and signet-ring cell carcinoma (P = 0.021, OR = 2.882, 95% CI = 1.173–7.084). We examined the expression of STARD3 in 243 tumor tissues out of the 311 GC patients and 20 adjacent normal gastric tissues using immumohistochemical (IHC) analysis and tissue microarrays (TMA). The expression of STARD3 was observed in the gastric parietal cells and in gastric tumor tissues and significantly correlated with gender (P = 0.004), alcohol drinking (P < 0.001), tumor location (P = 0.007), histological type (P = 0.005) and differentiation (P = 0.023) in GC. We concluded that the combined effect of haplotype CCCT of STARD3 might affect GC susceptibility. STARD3 expression might be related to the tumorigenesis of GC in the Chinese population. |
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Keywords: | CI confidence interval EDTA ethylenediaminetetraacetic acid ERBB2 epidermal growth factor receptor-2 GC gastric cancer GRB7 growth factor receptor-bound protein 7 HapMap International HapMap Project HWE Hardy&ndash Weinberg equilibrium IHC immunohistochemistry LD linkage disequilibrium MAF minor allele frequency MIEN1 migration and invasion enhancer 1 OR odds ratio PBS phosphate buffer saline PCR polymerase chain reaction PERLD1 per1-like domain-containing protein 1 PNMT phenylethanolamine N-methyltransferase PPP1R1B protein phosphatase 1 regulatory subunit 1B START steroidogenic acute regulatory-related lipid transfer STARD3 steroidogenic acute regulatory-related lipid transfer domain-containing 3 SNP single nucleotide polymorphism TBE Tris/borate/EDTA TCAP titin-cap TMA tissue microarray TOP2A topoisomerase (DNA) II alpha UTR untranslated regions ZNFN1A3 zinc-finger protein subfamily 1A3 |
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