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Article ; Online: Deep genotype imputation captures virtually all heritability of autoimmune vitiligo.

Roberts, Genevieve H L / Santorico, Stephanie A / Spritz, Richard A

2020 Volume 29, Issue 5, Page(s) 859–863

Abstract: Autoimmune vitiligo is a complex disease involving polygenic risk from at least 50 loci previously identified by genome-wide association studies. The objectives of this study were to estimate and compare vitiligo heritability in European-derived patients ...

Abstract	Autoimmune vitiligo is a complex disease involving polygenic risk from at least 50 loci previously identified by genome-wide association studies. The objectives of this study were to estimate and compare vitiligo heritability in European-derived patients using both family-based and 'deep imputation' genotype-based approaches. We estimated family-based heritability (h2FAM) by vitiligo recurrence among a total 8034 first-degree relatives (3776 siblings, 4258 parents or offspring) of 2122 unrelated vitiligo probands. We estimated genotype-based heritability (h2SNP) by deep imputation to Haplotype Reference Consortium and the 1000 Genomes Project data in unrelated 2812 vitiligo cases and 37 079 controls genotyped genome wide, achieving high-quality imputation from markers with minor allele frequency (MAF) as low as 0.0001. Heritability estimated by both approaches was exceedingly high; h2FAM = 0.75-0.83 and h2SNP = 0.78. These estimates are statistically identical, indicating there is essentially no remaining 'missing heritability' for vitiligo. Overall, ~70% of h2SNP is represented by common variants (MAF > 0.01) and 30% by rare variants. These results demonstrate that essentially all vitiligo heritable risk is captured by array-based genotyping and deep imputation. These findings suggest that vitiligo may provide a particularly tractable model for investigation of complex disease genetic architecture and predictive aspects of personalized medicine.
MeSH term(s)	Autoimmune Diseases/genetics ; Deep Learning ; Family ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Haplotypes ; Humans ; Male ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide ; Risk Factors ; Vitiligo/genetics
Language	English
Publishing date	2020-01-15
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddaa005
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Article ; Online: The genetic architecture of vitiligo.

Roberts, Genevieve H L / Santorico, Stephanie A / Spritz, Richard A

Pigment cell & melanoma research

2019 Volume 33, Issue 1, Page(s) 8–15

Abstract: Vitiligo is an autoimmune disease in which destruction of skin melanocytes results in patches of white skin and hair. Genome-wide linkage studies and genome-wide association studies in European ancestry cases identified over 50 vitiligo susceptibility ... ...

Abstract	Vitiligo is an autoimmune disease in which destruction of skin melanocytes results in patches of white skin and hair. Genome-wide linkage studies and genome-wide association studies in European ancestry cases identified over 50 vitiligo susceptibility loci, defining a model of melanocyte-directed autoimmunity. Vitiligo heritability is exceedingly high, ~2/3 coming from common and ~1/3 from rare genomic variants; ~20% of vitiligo risk is environmental. Vitiligo genetic risk is polygenic, with greater additive risk in multiplex vitiligo families than simplex cases. Vitiligo age-of-onset is bimodal, also involving a major genetic component; a MHC enhancer haplotype confers extreme risk for vitiligo (OR 8.1) and early disease onset, increasing expression of HLA-DQB1 mRNA and HLA-DQ protein and thus perhaps facilitating presentation of triggering antigens. Vitiligo triggering also involves a major environmental component; dramatic delay in vitiligo age-of-onset, especially from 1973 to 2004, suggests that exposure or response to a key vitiligo environmental trigger diminished during this period. Together, these findings provide deep understanding of vitiligo pathogenesis and genetic architecture, suggesting that vitiligo represents a tractable model for investigating complex disease genetic architecture and predictive aspects of personalized medicine.
MeSH term(s)	Age of Onset ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Multifactorial Inheritance/genetics ; Risk Factors ; Vitiligo/genetics
Language	English
Publishing date	2019-12-04
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	2409570-9
ISSN	1755-148X ; 1600-0749 ; 0893-5785 ; 1755-1471
ISSN (online)	1755-148X ; 1600-0749
ISSN	0893-5785 ; 1755-1471
DOI	10.1111/pcmr.12848
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Zs.A 2444: Show issues

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Article ; Online: Conservation Practices for Personal Protective Equipment: A Systematic Review with Focus on Lower-Income Countries.

Thiel, Cassandra L / Sreedhar, Pallavi / Silva, Genevieve S / Greene, Hannah C / Seetharaman, Meenakshi / Durr, Meghan / Roberts, Timothy / Vedanthan, Rajesh / Lee, Paul H / Andrade, Gizely / El-Shahawy, Omar / Hochman, Sarah E

International journal of environmental research and public health

2023 Volume 20, Issue 3

Abstract: During the start of the COVID-19 pandemic, shortages of personal protective equipment (PPE) necessitated unprecedented and non-validated approaches to conserve PPE at healthcare facilities, especially in high income countries where single-use disposable ... ...

Abstract	During the start of the COVID-19 pandemic, shortages of personal protective equipment (PPE) necessitated unprecedented and non-validated approaches to conserve PPE at healthcare facilities, especially in high income countries where single-use disposable PPE was ubiquitous. Our team conducted a systematic literature review to evaluate historic approaches for conserving single-use PPE, expecting that lower-income countries or developing contexts may already be uniquely conserving PPE. However, of the 50 included studies, only 3 originated from middle-income countries and none originated from low-income countries. Data from the included studies suggest PPE remained effective with extended use and with multiple or repeated use in clinical settings, as long as donning and doffing were performed in a standard manner. Multiple decontamination techniques were effective in disinfecting single use PPE for repeated use. These findings can inform healthcare facilities and providers in establishing protocols for safe conservation of PPE supplies and updating existing protocols to improve sustainability and overall resilience. Future studies should evaluate conservation practices in low-resource settings during non-pandemic times to develop strategies for more sustainable and resilient healthcare worldwide.
MeSH term(s)	Humans ; COVID-19/epidemiology ; COVID-19/prevention & control ; Pandemics/prevention & control ; Health Personnel ; Infectious Disease Transmission, Patient-to-Professional ; Personal Protective Equipment
Language	English
Publishing date	2023-01-31
Publishing country	Switzerland
Document type	Systematic Review ; Journal Article ; Review
ZDB-ID	2175195-X
ISSN	1660-4601 ; 1661-7827
ISSN (online)	1660-4601
ISSN	1661-7827
DOI	10.3390/ijerph20032575
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Article ; Online: Conservation Practices for Personal Protective Equipment

Cassandra L. Thiel / Pallavi Sreedhar / Genevieve S. Silva / Hannah C. Greene / Meenakshi Seetharaman / Meghan Durr / Timothy Roberts / Rajesh Vedanthan / Paul H. Lee / Gizely Andrade / Omar El-Shahawy / Sarah E. Hochman

International Journal of Environmental Research and Public Health, Vol 20, Iss 2575, p

A Systematic Review with Focus on Lower-Income Countries

2023 Volume 2575

Abstract	During the start of the COVID-19 pandemic, shortages of personal protective equipment (PPE) necessitated unprecedented and non-validated approaches to conserve PPE at healthcare facilities, especially in high income countries where single-use disposable PPE was ubiquitous. Our team conducted a systematic literature review to evaluate historic approaches for conserving single-use PPE, expecting that lower-income countries or developing contexts may already be uniquely conserving PPE. However, of the 50 included studies, only 3 originated from middle-income countries and none originated from low-income countries. Data from the included studies suggest PPE remained effective with extended use and with multiple or repeated use in clinical settings, as long as donning and doffing were performed in a standard manner. Multiple decontamination techniques were effective in disinfecting single use PPE for repeated use. These findings can inform healthcare facilities and providers in establishing protocols for safe conservation of PPE supplies and updating existing protocols to improve sustainability and overall resilience. Future studies should evaluate conservation practices in low-resource settings during non-pandemic times to develop strategies for more sustainable and resilient healthcare worldwide.
Keywords	PPE ; sustainability ; waste ; resilience ; conservation ; efficiency ; Medicine ; R
Subject code	333
Language	English
Publishing date	2023-01-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles.

Roberts, Genevieve H L / Paul, Subrata / Yorgov, Daniel / Santorico, Stephanie A / Spritz, Richard A

American journal of human genetics

2019 Volume 105, Issue 2, Page(s) 364–372

Abstract: Vitiligo is an autoimmune disease that results in patches of depigmented skin and hair. Previous genome-wide association studies (GWASs) of vitiligo have identified 50 susceptibility loci. Variants at the associated loci are generally common and have ... ...

Abstract	Vitiligo is an autoimmune disease that results in patches of depigmented skin and hair. Previous genome-wide association studies (GWASs) of vitiligo have identified 50 susceptibility loci. Variants at the associated loci are generally common and have individually small effects on risk. Most vitiligo cases are "simplex," where there is no family history of vitiligo, though occasional family clustering of vitiligo occurs, and some "multiplex" families report numerous close affected relatives. Here, we investigate whether simplex and multiplex vitiligo comprise different disease subtypes with different underlying genetic etiologies. We developed and compared the performance of several different vitiligo polygenic risk scores derived from GWAS data. By using the best-performing risk score, we find increased polygenic burden of risk alleles identified by GWAS in multiplex vitiligo cases relative to simplex cases. We additionally find evidence of polygenic transmission of common, low-effect-size risk alleles within multiplex-vitiligo-affected families. Our findings strongly suggest that family clustering of vitiligo involves a high burden of the same common, low-effect-size variants that are relevant in simplex cases. We furthermore find that a variant within the major histocompatibility complex (MHC) class II region contributes disproportionately more to risk in multiplex vitiligo cases than in simplex cases, supporting a special role for adaptive immune triggering in the etiology of multiplex cases. We suggest that genetic risk scores can be a useful tool in analyzing the genetic architecture of clinical disease subtypes and identifying subjects with unusual etiologies for further investigation.
MeSH term(s)	Alleles ; Autoimmune Diseases/genetics ; Autoimmune Diseases/pathology ; Case-Control Studies ; Family ; Female ; Genes/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide ; Risk Factors ; Vitiligo/genetics ; Vitiligo/pathology
Language	English
Publishing date	2019-07-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2019.06.013
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Zs.A 107: Show issues

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Article ; Online: Expanded COVID-19 phenotype definitions reveal distinct patterns of genetic association and protective effects.

Nature genetics

2022 Volume 54, Issue 4, Page(s) 374–381

Abstract: Multiple COVID-19 genome-wide association studies (GWASs) have identified reproducible genetic associations indicating that there is a genetic component to susceptibility and severity risk. To complement these studies, we collected deep coronavirus ... ...

Abstract	Multiple COVID-19 genome-wide association studies (GWASs) have identified reproducible genetic associations indicating that there is a genetic component to susceptibility and severity risk. To complement these studies, we collected deep coronavirus disease 2019 (COVID-19) phenotype data from a survey of 736,723 AncestryDNA research participants. With these data, we defined eight phenotypes related to COVID-19 outcomes: four phenotypes that align with previously studied COVID-19 definitions and four 'expanded' phenotypes that focus on susceptibility given exposure, mild clinical manifestations and an aggregate score of symptom severity. We performed a replication analysis of 12 previously reported COVID-19 genetic associations with all eight phenotypes in a trans-ancestry meta-analysis of AncestryDNA research participants. In this analysis, we show distinct patterns of association at the 12 loci with the eight outcomes that we assessed. We also performed a genome-wide discovery analysis of all eight phenotypes, which did not yield new genome-wide significant loci but did suggest that three of the four 'expanded' COVID-19 phenotypes have enhanced power to capture protective genetic associations relative to the previously studied phenotypes. Thus, we conclude that continued large-scale ascertainment of deep COVID-19 phenotype data would likely represent a boon for COVID-19 therapeutic target identification.
MeSH term(s)	COVID-19/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics
Language	English
Publishing date	2022-04-11
Publishing country	United States
Document type	Journal Article ; Meta-Analysis
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/s41588-022-01042-x
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Zs.A 3613: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 46: Show issues

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Article ; Online: COVID-19 susceptibility and severity risks in a cross-sectional survey of over 500 000 US adults.

Knight, Spencer C / McCurdy, Shannon R / Rhead, Brooke / Coignet, Marie V / Park, Danny S / Roberts, Genevieve H L / Berkowitz, Nathan D / Zhang, Miao / Turissini, David / Delgado, Karen / Pavlovic, Milos / Haug Baltzell, Asher K / Guturu, Harendra / Rand, Kristin A / Girshick, Ahna R / Hong, Eurie L / Ball, Catherine A

BMJ open

2022 Volume 12, Issue 10, Page(s) e049657

Abstract: Objectives: The enormous toll of the COVID-19 pandemic has heightened the urgency of collecting and analysing population-scale datasets in real time to monitor and better understand the evolving pandemic. The objectives of this study were to examine the ...

Abstract	Objectives: The enormous toll of the COVID-19 pandemic has heightened the urgency of collecting and analysing population-scale datasets in real time to monitor and better understand the evolving pandemic. The objectives of this study were to examine the relationship of risk factors to COVID-19 susceptibility and severity and to develop risk models to accurately predict COVID-19 outcomes using rapidly obtained self-reported data. Design: A cross-sectional study. Setting: AncestryDNA customers in the USA who consented to research. Participants: The AncestryDNA COVID-19 Study collected self-reported survey data on symptoms, outcomes, risk factors and exposures for over 563 000 adult individuals in the USA in just under 4 months, including over 4700 COVID-19 cases as measured by a self-reported positive test. Results: We replicated previously reported associations between several risk factors and COVID-19 susceptibility and severity outcomes, and additionally found that differences in known exposures accounted for many of the susceptibility associations. A notable exception was elevated susceptibility for men even after adjusting for known exposures and age (adjusted OR=1.36, 95% CI=1.19 to 1.55). We also demonstrated that self-reported data can be used to build accurate risk models to predict individualised COVID-19 susceptibility (area under the curve (AUC)=0.84) and severity outcomes including hospitalisation and critical illness (AUC=0.87 and 0.90, respectively). The risk models achieved robust discriminative performance across different age, sex and genetic ancestry groups within the study. Conclusions: The results highlight the value of self-reported epidemiological data to rapidly provide public health insights into the evolving COVID-19 pandemic.
MeSH term(s)	Adult ; COVID-19/epidemiology ; Cross-Sectional Studies ; Humans ; Male ; Pandemics ; Risk Factors ; SARS-CoV-2
Language	English
Publishing date	2022-10-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599832-8
ISSN	2044-6055 ; 2044-6055
ISSN (online)	2044-6055
ISSN	2044-6055
DOI	10.1136/bmjopen-2021-049657
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Article ; Online: Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

Ying Jin / Genevieve H. L. Roberts / Tracey M. Ferrara / Songtao Ben / Nanja van Geel / Albert Wolkerstorfer / Khaled Ezzedine / Janet Siebert / Charles P. Neff / Brent E. Palmer / Stephanie A. Santorico / Richard A. Spritz

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 10

Abstract: GWAS have led to the identification of 49 genetic loci associated with vitiligo. Here, the authors observe a bimodal distribution of age-of-onset and find a novel genetic locus specifically associated with early-onset vitiligo, located in a regulatory ... ...

Abstract	GWAS have led to the identification of 49 genetic loci associated with vitiligo. Here, the authors observe a bimodal distribution of age-of-onset and find a novel genetic locus specifically associated with early-onset vitiligo, located in a regulatory element in the MHC class II region.
Keywords	Science ; Q
Language	English
Publishing date	2019-01-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
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Article ; Online: Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 10

Abstract	GWAS have led to the identification of 49 genetic loci associated with vitiligo. Here, the authors observe a bimodal distribution of age-of-onset and find a novel genetic locus specifically associated with early-onset vitiligo, located in a regulatory element in the MHC class II region.
Keywords	Science ; Q
Language	English
Publishing date	2019-01-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.

Jin, Ying / Roberts, Genevieve H L / Ferrara, Tracey M / Ben, Songtao / van Geel, Nanja / Wolkerstorfer, Albert / Ezzedine, Khaled / Siebert, Janet / Neff, Charles P / Palmer, Brent E / Santorico, Stephanie A / Spritz, Richard A

Nature communications

2019 Volume 10, Issue 1, Page(s) 391

Abstract: Vitiligo is an autoimmune disease in which melanocyte destruction causes skin depigmentation, with 49 loci known from previous GWAS. Aiming to define vitiligo subtypes, we discovered that age-of-onset is bimodal; one-third of cases have early onset (mean ...

Abstract	Vitiligo is an autoimmune disease in which melanocyte destruction causes skin depigmentation, with 49 loci known from previous GWAS. Aiming to define vitiligo subtypes, we discovered that age-of-onset is bimodal; one-third of cases have early onset (mean 10.3 years) and two-thirds later onset (mean 34.0 years). In the early-onset subgroup we found novel association with MHC class II region indel rs145954018, and independent association with the principal MHC class II locus from previous GWAS, represented by rs9271597; greatest association was with rs145954018del-rs9271597A haplotype (P = 2.40 × 10
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; Child ; Child, Preschool ; Dendritic Cells ; Female ; Gene Expression Regulation/genetics ; Genes, MHC Class II/genetics ; Genes, MHC Class II/immunology ; Genetic Loci ; Genetic Predisposition to Disease ; Genotype ; HLA-DQ Antigens/metabolism ; HLA-DQ beta-Chains/metabolism ; Haplotypes/immunology ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Monocytes ; Phenotype ; RNA, Messenger/metabolism ; Up-Regulation ; Vitiligo/genetics ; Vitiligo/immunology ; Young Adult
Chemical Substances	HLA-DQ Antigens ; HLA-DQ beta-Chains ; HLA-DQB1 antigen ; RNA, Messenger
Language	English
Publishing date	2019-01-23
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-019-08337-4
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