scholarly journals In silico approaches to discover the functional impact of non-synonymous single nucleotide polymorphisms in selective sweep regions of the Landrace genome

2018 ◽  
Vol 31 (12) ◽  
pp. 1980-1990
Author(s):  
Donghyun Shin ◽  
Kyung-Hye Won ◽  
Ki-Duk Song
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
In Silico ◽  
Selective Sweep ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Impact

Association of single-nucleotide polymorphisms of the KEAP1 gene with the risk of various human diseases and its functional impact using in silico analysis

2018 ◽  
Vol 137 ◽  
pp. 205-218 ◽  
Author(s):  
Umapathy Dhamodharan ◽  
Balashanmugam Ponjayanthi ◽  
Dornadula Sireesh ◽  
Elango Bhakkiyalakshmi ◽  
Kunka Mohanram Ramkumar
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
In Silico ◽  
In Silico Analysis ◽  
Human Diseases ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Impact ◽  
Silico Analysis

scholarly journals EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome

BMC Genomics ◽  
2014 ◽  
Vol 15 (1) ◽  
pp. 455 ◽  
Author(s):  
Shuai Zeng ◽  
Jing Yang ◽  
Brian Hon-Yin Chung ◽  
Yu Lau ◽  
Wanling Yang
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Human Genome ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Impact

scholarly journals Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Jiaping Chen ◽  
Yue Jiang ◽  
Jing Zhou ◽  
Sijun Liu ◽  
Yayun Gu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
In Silico ◽  
Promoter Region ◽  
Cancer Susceptibility ◽  
Chinese Women ◽  
Close Association ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Variants in microRNA genes may affect their expression by interfering with the microRNA maturation process and may substantially contribute to the risk of breast cancer. Recent studies have identified miR-10b as an interesting candidate because of its close association with the metastatic behavior of breast cancer. However, the roles of miR-10b-related single nucleotide polymorphisms in breast cancer susceptibility remain unclear. This case-control study evaluated the associations between variants in the upstream transcription regulation region of miR-10b and the risk of breast cancer among Chinese women. Seven potentially functional SNPs were investigated using genotyping assays. The potential biological functions of the identified positive SNPs were further evaluated using in silico databases. We found that rs4078756, which was located at the promoter region of miR-10b, was significantly associated with breast cancer risk (rs4078756 AG/GG versus AA, adjusted odds ratio: 1.17, 95% confidence interval: 1.02–1.35). The other six single nucleotide polymorphisms exhibited negative associations. Based on the in silico prediction, rs4078756 potentially regulated miR-10b expression through promoter activation or repression. These findings indicate that a potentially functional SNP (rs4078756) in the promoter region of miR-10b may contribute to breast cancer susceptibility among Chinese women.

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