Association of rs12722 COL5A1 with Pulmonary Tuberculosis infection: a preliminary case-control study in a Kazakhstani population

Zhetkenev, Sanzhar; Khassan, Ayauly; Khamzina, Armanay; Crape, Byron; Akilzhanova, Ainur; Kozhamkulov, Ulan; Yerezhepov, Dauren; Chan, Chee Kai

doi:10.1101/19008995

Cited by 2 publications

(2 citation statements)

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“…We explored the hypothesis that each patient could have one unique combination of rare pathogenic/highly relevant variants related for different reasons to infection susceptibility [9] (Fig 1): G6PD-deficient cells are more susceptible to several viruses including coronavirus and have down-regulated innate immunity (in line with the observed very low levels of IL-6) ( Fig 1) [25]; ZEB1-linked corneal dystrophy, known to function in immune cells, and playing an important role in establishing both the effector response and future immunity in response to pathogens [26]; TGFBI mutations (associated with corneal dystrophy); ABCC6 gene mutations (associated with pseudoxanthoma elasticum); likely hypomorphic mutations in CHD7 or COL5A1/2 variants, playing a role as modulators of immune cells activity and/or response to infections [27][28][29][30][31][32][33][34]; ADAR, involved in viral RNA editing; CLEC4M, an alternative receptor for SARS-CoV [35] HCRTR1/2, receptors of Hypocretin, important in the regulation of fatigue during infections [36]; FURIN, a serine protease that cleaves the SARS-Cov-2 minor capsid protein important for ACE2 contact and viral entry into the host cells [37,38].…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of COVID-19 hospitalized patients

et al. 2020

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Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy, from April 7 to May 7, 2020. Eighty percent of patients required respiratory assistance, half of them being on mechanical ventilation. Fiftyone percent had hepatic involvement and hyposmia was ascertained in 3 patients. Searching for common genes by collapsing methods against 150 WES of controls of the Italian population failed to give straightforward statistically significant results with the exception of two genes. This result is not unexpected since we are facing the most challenging common disorder triggered by environmental factors with a strong underlying heritability (50%). The lesson learned from Autism-Spectrum-Disorders prompted us to re-analyse the cohort treating each patient as an independent case, following a Mendelian-like model. We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for COVID-19 susceptibility with a number of common susceptibility genes which represent the favorite background in which additional host private mutations may determine disease progression.

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of COVID-19 hospitalized patients

et al. 2020

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“…): G6PD-deficient cells are more susceptible to several viruses including coronavirus and have down-regulated innate immunity (in line with the observed very low levels of IL-6) (Fig.1)[25]; ZEB1-linked corneal dystrophy, known to function in immune cells, and playing an important role in establishing both the effector response and future immunity in response to pathogens[26]; TGFBI mutations (associated with corneal dystrophy); ABCC6 gene mutations (associated with pseudoxanthoma elasticum); likely hypomorphic mutations in CHD7 or COL5A1/2 variants, playing a role as modulators of immune cells activity and/or response to infections[27][28][29][30][31][32][33][34]; ADAR, involved in viral RNA editing; CLEC4M, an alternative receptor for SARS-CoV [35] HCRTR1/2, receptors of Hypocretin, important in the regulation of fatigue during infections [36]; FURIN, a serine protease that cleaves the SARS-Cov-2 minor capsid protein important for ACE2 contact and viral entry into the host cells [37,38]. Finally, interesting rare variants have been identified in NitricOxide synthase NOS3 and Opioid receptor OPRM1.…”

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confidence: 99%