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  1. Article ; Online: SARS-CoV-2 infection risk assessment in the endometrium: viral infection-related gene expression across the menstrual cycle.

    Henarejos-Castillo, Ismael / Sebastian-Leon, Patricia / Devesa-Peiro, Almudena / Pellicer, Antonio / Diaz-Gimeno, Patricia

    Fertility and sterility

    2020  Volume 114, Issue 2, Page(s) 223–232

    Abstract: Objective: To determine the susceptibility of the endometrium to infection by-and thereby potential damage from-SARS-CoV-2.: Design: Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets.: Setting: ... ...

    Abstract Objective: To determine the susceptibility of the endometrium to infection by-and thereby potential damage from-SARS-CoV-2.
    Design: Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets.
    Setting: Infertility research department affiliated with a public hospital.
    Patient(s): Gene expression data from five studies in 112 patients with normal endometrium collected throughout the menstrual cycle.
    Intervention(s): None.
    Main outcome measure(s): Gene expression and correlation between viral infectivity genes and age throughout the menstrual cycle.
    Result(s): Gene expression was high for TMPRSS4, CTSL, CTSB, FURIN, MX1, and BSG; medium for TMPRSS2; and low for ACE2. ACE2, TMPRSS4, CTSB, CTSL, and MX1 expression increased toward the window of implantation. TMPRSS4 expression was positively correlated with ACE2, CTSB, CTSL, MX1, and FURIN during several cycle phases; TMPRSS2 was not statistically significantly altered across the cycle. ACE2, TMPRSS4, CTSB, CTSL, BSG, and MX1 expression increased with age, especially in early phases of the cycle.
    Conclusion(s): Endometrial tissue is likely safe from SARS-CoV-2 cell entry based on ACE2 and TMPRSS2 expression, but susceptibility increases with age. Further, TMPRSS4, along with BSG-mediated viral entry into cells, could imply a susceptible environment for SARS-CoV-2 entry via different mechanisms. Additional studies are warranted to determine the true risk of endometrial infection by SARS-CoV-2 and implications for fertility treatments.
    MeSH term(s) Adult ; Age Factors ; Angiotensin-Converting Enzyme 2 ; Betacoronavirus/genetics ; Betacoronavirus/metabolism ; COVID-19 ; Coronavirus Infections/genetics ; Coronavirus Infections/metabolism ; Endometrium/metabolism ; Endometrium/virology ; Female ; Gene Expression Regulation, Viral ; Humans ; Menstrual Cycle ; Middle Aged ; Pandemics ; Peptidyl-Dipeptidase A/biosynthesis ; Peptidyl-Dipeptidase A/genetics ; Pneumonia, Viral/genetics ; Pneumonia, Viral/metabolism ; Risk Assessment/methods ; SARS-CoV-2 ; Virus Internalization ; Young Adult
    Chemical Substances Peptidyl-Dipeptidase A (EC 3.4.15.1) ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23)
    Keywords covid19
    Language English
    Publishing date 2020-06-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80133-1
    ISSN 1556-5653 ; 0015-0282
    ISSN (online) 1556-5653
    ISSN 0015-0282
    DOI 10.1016/j.fertnstert.2020.06.026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: SARS-CoV-2 infection risk assessment in the endometrium

    Henarejos-Castillo, Ismael / Sebastian-Leon, Patricia / Devesa-Peiro, Almudena / Pellicer, Antonio / Diaz-Gimeno, Patricia

    Fertility and Sterility

    viral infection-related gene expression across the menstrual cycle

    2020  Volume 114, Issue 2, Page(s) 223–232

    Keywords Obstetrics and Gynaecology ; Reproductive Medicine ; covid19
    Language English
    Publisher Elsevier BV
    Publishing country us
    Document type Article ; Online
    ZDB-ID 80133-1
    ISSN 1556-5653 ; 0015-0282
    ISSN (online) 1556-5653
    ISSN 0015-0282
    DOI 10.1016/j.fertnstert.2020.06.026
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article: Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.

    Henarejos-Castillo, Ismael / Aleman, Alejandro / Martinez-Montoro, Begoña / Gracia-Aznárez, Francisco Javier / Sebastian-Leon, Patricia / Romeu, Monica / Remohi, Jose / Patiño-Garcia, Ana / Royo, Pedro / Alkorta-Aranburu, Gorka / Diaz-Gimeno, Patricia

    Journal of personalized medicine

    2021  Volume 11, Issue 7

    Abstract: Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10-25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the ... ...

    Abstract Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10-25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case-control (
    Language English
    Publishing date 2021-06-27
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662248-8
    ISSN 2075-4426
    ISSN 2075-4426
    DOI 10.3390/jpm11070609
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: SARS-CoV-2 infection risk assessment in the endometrium: viral infection-related gene expression across the menstrual cycle

    Henarejos-Castillo, Ismael / Sebastian-Leon, Patricia / Devesa-Peiro, Almudena / Pellicer, Antonio / Diaz-Gimeno, Patricia

    Fertil Steril

    Abstract: OBJECTIVE: To determine the susceptibility of the endometrium to infection by-and thereby potential damage from-SARS-CoV-2. DESIGN: Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets. SETTING: Infertility ... ...

    Abstract OBJECTIVE: To determine the susceptibility of the endometrium to infection by-and thereby potential damage from-SARS-CoV-2. DESIGN: Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets. SETTING: Infertility research department affiliated with a public hospital. PATIENT(S): Gene expression data from five studies in 112 patients with normal endometrium collected throughout the menstrual cycle. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Gene expression and correlation between viral infectivity genes and age throughout the menstrual cycle. RESULT(S): Gene expression was high for TMPRSS4, CTSL, CTSB, FURIN, MX1, and BSG; medium for TMPRSS2; and low for ACE2. ACE2, TMPRSS4, CTSB, CTSL, and MX1 expression increased toward the window of implantation. TMPRSS4 expression was positively correlated with ACE2, CTSB, CTSL, MX1, and FURIN during several cycle phases; TMPRSS2 was not statistically significantly altered across the cycle. ACE2, TMPRSS4, CTSB, CTSL, BSG, and MX1 expression increased with age, especially in early phases of the cycle. CONCLUSION(S): Endometrial tissue is likely safe from SARS-CoV-2 cell entry based on ACE2 and TMPRSS2 expression, but susceptibility increases with age. Further, TMPRSS4, along with BSG-mediated viral entry into cells, could imply a susceptible environment for SARS-CoV-2 entry via different mechanisms. Additional studies are warranted to determine the true risk of endometrial infection by SARS-CoV-2 and implications for fertility treatments.
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #601023
    Database COVID19

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  5. Article ; Online: Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

    Ismael Henarejos-Castillo / Alejandro Aleman / Begoña Martinez-Montoro / Francisco Javier Gracia-Aznárez / Patricia Sebastian-Leon / Monica Romeu / Jose Remohi / Ana Patiño-Garcia / Pedro Royo / Gorka Alkorta-Aranburu / Patricia Diaz-Gimeno

    Journal of Personalized Medicine, Vol 11, Iss 609, p

    2021  Volume 609

    Abstract: Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the ... ...

    Abstract Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case–control ( n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants <5% minor allele frequency (MAF; in the IGSR) and coverage ≥ 100× were considered. A profile of 66 variants of uncertain significance was used for training an unsupervised machine learning model to separate cases from controls (97.2% sensitivity, 99.2% specificity) and stratify the population into two subtypes of OF (A and B) (93.31% sensitivity, 96.67% specificity). Model testing within the IGSR female population predicted 0.5% of women as subtype A and 2.4% as subtype B. This is the first study linking OF to the accumulation of rare variants and generates a new potential taxonomy supporting application of this approach for precision medicine in fertility preservation.
    Keywords ovarian failure ; whole exome sequencing ; single nucleotide variant ; infertility ; precision medicine ; prediction model ; Medicine ; R
    Subject code 006
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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