Long noncoding RNA single‐nucleotide polymorphisms: a new cause of genetic susceptibility to autoimmune blistering disease

2019 ◽  
Vol 181 (2) ◽  
pp. 241-242
Author(s):  
K.T. Amber
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Susceptibility ◽  
Long Noncoding Rna ◽  
Noncoding Rna ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Autoimmune Blistering Disease ◽  
Blistering Disease

Genetic variations associated with long noncoding RNAs

2020 ◽  
Vol 64 (6) ◽  
pp. 867-873 ◽  
Author(s):  
Jianjun Luo ◽  
Runsheng Chen
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Long Noncoding Rna ◽  
Noncoding Rna ◽  
Development Process ◽  
Noncoding Rnas ◽  
Genetic Variations ◽  
Nucleotide Polymorphisms ◽  
Structural Variations ◽  
Immune Disease ◽  
Single Nucleotide

Abstract Genetic variations, including single nucleotide polymorphisms (SNPs) and structural variations, are widely distributed in the genome, including the long noncoding RNA (lncRNA) regions. The changes at locus might produce numerous effects in a variety of aspects. Multiple bioinformatics resources and tools were also developed for systematically dealing with genetic variations associated with lncRNAs. Moreover, correlation of the genetic variations in lncRNAs with immune disease, cancers, and other disease as well as development process were all included for discussion. In this essay, we summarized how and in what aspects these changes would affect lncRNA functions.

scholarly journals Single Nucleotide Polymorphisms in HOTAIR Are Related to Breast Cancer Risk and Prognosis in the Northeastern Chinese Population

2021 ◽  
Vol 11 ◽  
Author(s):  
Zheng Lv ◽  
Changgui Kou ◽  
Naifei Chen ◽  
Lin Jia ◽  
Xu Sun ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
Noncoding Rna ◽  
Disease Free Survival ◽  
Population Based ◽  
Clinicopathological Characteristics ◽  
Nucleotide Polymorphisms ◽  
Binary Logistic Regression Model ◽  
Single Nucleotide

BackgroundThe long noncoding RNA HOX transcript antisense RNA (HOTAIR) is highly expressed in breast cancer (BC) tissues and is associated with the recurrence and metastasis of BC. Until now, the results of studies on associations between several functional single nucleotide polymorphisms(SNPs) (rs920778, rs1899663, and rs4759314) in HOTAIR with BC susceptibility carried out in different regions of China are still inconsistent. There is no study on correlation between HOTAIR SNPs and prognosis of Chinese population. Therefore, we investigated the relationship between HOTAIR SNPs and susceptibility to and prognosis of BC.MethodWe conducted a population-based case-control study involving 828 BC cases and 905 healthy controls. Peripheral blood DNA was used for genotyping. The association between HOTAIR genotypes and BC risk were estimated by odds ratios (ORs) computed using the binary logistic regression model. The relationships between HOTAIR SNPs and clinicopathological features were tested by Pearson’s chi-square test or Fisher’s exact test. Survival was analyzed using the Kaplan-Meier method.ResultsThe functional rs920778 genetic variant increased BC risk in the codominant model. Individuals with the rs920778 GG genotype had an OR of 2.426 (95% confidence interval [CI] = 1.491–3.947, P < 0.001) for developing BC compared to individuals with the AA genotype. Individuals with the AG genotype had an OR of 1.296 (95% CI = 1.040–1.614, P = 0.021) for developing BC compared to individuals with the AA genotype. Individuals with the rs4759314 GA genotype had a lower BC risk than individuals with the rs4759314 AA/GG genotype (OR = 0.566, 95% CI = 0.398–0.803, P = 0.001). The rs1899663 genotype had no correlation with BC susceptibility. Haplotypes composed of rs920778–rs1899663 and rs920778–rs1899663–rs4759314 could increase BC risk (all P < 0.001). There were no statistically significant associations between HOTAIR SNPs and clinicopathological characteristics. The rs920778 GG/AG genotypes were associated with worse disease-free survival (DFS) (p = 0.012), and the rs4759314 GA genotype was associated with worse DFS and overall survival (OS) (p = 0.011).ConclusionHOTAIR SNPs(rs920778 and rs4759314) are significantly related to BC susceptibility and prognosis in the northeastern Chinese population, indicating the significance in the occurrence and development of BC.

Genetic susceptibility to chronic Chagas disease: An overview of single nucleotide polymorphisms of cytokine genes

Cytokine ◽  
2012 ◽  
Vol 59 (2) ◽  
pp. 203-208 ◽  
Author(s):  
Romero H.T. Vasconcelos ◽  
Silvia M.L. Montenegro ◽  
Elisa A.N. Azevedo ◽  
Yara M. Gomes ◽  
Clarice N.L. Morais
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Susceptibility ◽  
Chagas Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cytokine Genes ◽  
Chronic Chagas Disease
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