RGD Reference Report - MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. - Rat Genome Database

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MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma.

Authors: Qu, Yanhong  Qu, Honghong  Luo, Manli  Wang, Peng  Song, Chunhua  Wang, Kaijuan  Zhang, Jianying  Dai, Liping 
Citation: Qu Y, etal., Mol Genet Genomics. 2014 Dec;289(6):1123-30. doi: 10.1007/s00438-014-0873-x. Epub 2014 Jun 12.
RGD ID: 126781764
Pubmed: (View Article at PubMed) PMID:24916311
DOI: Full-text: DOI:10.1007/s00438-014-0873-x

Esophageal cancer (EC) is the sixth leading cause of cancer-associated death worldwide and the incidence and mortality in China are the highest. The single nucleotide polymorphisms (SNPs) related to microRNAs could lead to alteration in microRNA expression and contribute to the susceptibility of cancer. To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in ErbB4 were significantly associated with reduced ESCC risk (OR(adjusted): 0.62, 95 % CI: 0.39-0.99 and OR(adjusted): 0.38, 95 % CI: 0.24-0.61). The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in G(rs1595066)C(rs16845990) and G(rs1595066)T(rs16845990) haplotypes (OR(adjusted): 1.46, 95 % CI: 1.08-1.99 and OR(adjusted): 1.33, 95 % CI: 1.10-1.62), and inversely reduced ESCC risk in A(rs1595066)C(rs16845990) and A(rs1595066)T(rs16845990) haplotypes with OR (95 % CI) of 0.75 (0.60-0.94) and 0.65 (0.49-0.86), respectively. These findings suggest that the polymorphisms in the microRNA-related genes may affect susceptibility of ESCC in Chinese Han population and the gene-gene interactions play vital roles in the progression on esophageal cancer. Future studies with larger sample and different ethnic populations are required to support and validate our findings.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Erbb4  (erb-b2 receptor tyrosine kinase 4)

Genes (Mus musculus)
Erbb4  (erb-b2 receptor tyrosine kinase 4)

Genes (Homo sapiens)
ERBB4  (erb-b2 receptor tyrosine kinase 4)

Additional Information