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Therapeutic Challenges in COVID-19
Published in Debmalya Barh, Kenneth Lundstrom, COVID-19, 2022
Alaa A. A. Aljabali, Murtaza M. Tambuwala, Debmalya Barh, Kenneth Lundstrom
-B*15:27, -B*46:01, -C*01:02, an-C*07:29 alleles correlate with COVID-19 susceptibility, and HLA-A*02:02, -B*15:03, and -C*12:03 may have a protective role. Genetic polymorphisms that affect ACE2 and TMPRSS2 expression also increase the risk of infection, and variations in cytokine genes such as IL6, ILR, TNF etc. could be associated with cytokine storm affecting disease severity. In the GWAS (Genome-Wide Association Study), two loci are found associated with COVID-19 severity. These are 3p21.31 harboring genes such as FYCO1, SLC6A20, CCR9, LZTFL1, XCR1, and CXCR6, and 9q34.2, where the ABO genes are located [63]. It has also been reported that people with blood group A are more susceptible to SARS-CoV-2 infections [64]. Furthermore, inborn errors of type I IFN immunity are associated with very severe COVID-19 [65].
Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The identification of 21 genes involved in BBS (i.e., BBS1, BBS2, BBS3 [ARL6], BBS4, BBS5, BBS6 [MKKS], BBS7, BBS8 [TTC8], BBS9, BBS10, BBS11 [TRIM32], BBS12, BBS13 [MKS1], BBS14 [CEP290], BBS15 [WDPCP], BBS16 [SDCCAG8], BBS17 [LZTFL1], BBS18 [BBIP1], BBS19 [IFT27], BBS20 [IFT72], and BBS21 [C8ORF37/NPHP1]) through linkage analysis and other approaches have revealed important insights on the pathogenesis of this clinically and genetically heterogeneous ciliopathy [8–10].
COVID-19 and human reproduction: A pandemic that packs a serious punch
Published in Systems Biology in Reproductive Medicine, 2021
George Anifandis, Helen G. Tempest, Rafael Oliva, Grace M. Swanson, Mara Simopoulou, Charles A. Easley, Michael Primig, Christina I. Messini, Paul J. Turek, Peter Sutovsky, Steve J. Ory, Stephen A. Krawetz
A radically different approach to identifying susceptibility genes has been through the application of genome wide association studies (Kachuri et al. 2020; Ellinghaus et al. 2020). Specifically, associations were detected at the 9q34.2 embedded in the ABO blood group locus and several other signals clustered at 3p21.31, which included genes for SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1 (Ellinghaus et al. 2020). A significant higher risk and a protective effect in A and O blood groups, respectively, was detected in patients with severe COVID-19 as compared with other blood groups. Locus 3p21.31, contains several genes with functions that are potentially relevant to COVID-19 susceptibility or prognosis. One of the candidates detected is SLC6A20, which encodes a transporter and functionally interacts with ACE2 (Ellinghaus et al. 2020). In addition, the locus also contains genes that encode chemokine receptors (CCR9; CXCR6) related to the immune response to airway pathogens (Wein et al. 2019). Using similar approaches, the HLA region was also confirmed to be important in the host response to viral infection (Kachuri et al. 2020). Overall the results from these genomic approaches are consistent with the maladaptive cytokine release in response to infection and other stimuli, known as ‘cytokine storm’. At both the local and systemic levels this causes substantial immune damage that has been reported as part of the pathogenesis in severe COVID-19 patients (Debnath et al. 2020; Ye et al. 2020).
Biomarkers of aggressiveness in genitourinary tumors with emphasis on kidney, bladder, and prostate cancer
Published in Expert Review of Molecular Diagnostics, 2018
Alessia Cimadamore, Silvia Gasparrini, Matteo Santoni, Liang Cheng, Antonio Lopez-Beltran, Nicola Battelli, Francesco Massari, Francesca Giunchi, Michelangelo Fiorentino, Marina Scarpelli, Rodolfo Montironi
It has been found that different miRNAs modulate Wnt signaling in malignant human tumors [7]. A recent study has found that overexpression of miR-106b-5p, a microRNA precursor from the miR-17 family, promotes ccRCC aggressiveness and a stem-cell-like phenotype by downregulating Wnt antagonists. In particular, miR-106b-5p simultaneously suppress LZTFL1, SFRP1, and DKK2, three antagonists of Wnt pathway, thus favoring the activation of the oncogenic pathway. Hence, the high expression of miR-106b-5p and the opposing low expression of LZTFL1, SFRP1 or DKK2 correlates with poor overall-survival of ccRCC patients from The Cancer Genome Atlas (TCGA) [8] (Figure 1).