Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program

Rao, Nandana D.; Moonesinghe, Ramal; Shi, Lu; Adams, Paul C.; Jarvik, Gail P.; Kowdley, Kris V.; Schieve, Laura A.; Grosse, Scott D.; Dotson, W. David; Khoury, Muin J.

doi:10.1016/j.gimo.2024.101959

Title: Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program

Journal Article · 31 December 2024 · Genetics in Medicine Open

DOI: https://doi.org/10.1016/j.gimo.2024.101959 · OSTI ID:2525980

;

Not Available

View Journal Article

Cite

Export

Save

Sponsoring Organization:: USDOE

OSTI ID:: 2525980

Journal Information:: Genetics in Medicine Open, Journal Name: Genetics in Medicine Open Journal Issue: C Vol. 3; ISSN 2949-7744

Publisher:: ElsevierCopyright Statement

Country of Publication:: Country unknown/Code not available

Language:: English

References (26)

Screening for Hemochromatosis in Asymptomatic Subjects With or Without a Family History Powell, Lawrie W.; Dixon, Jeannette L.; Ramm, Grant A. Archives of Internal Medicine, Vol. 166, Issue 3 https://doi.org/10.1001/archinte.166.3.294	journal	February 2006
Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy Atkins, Janice L.; Pilling, Luke C.; Masoli, Jane A. H. JAMA, Vol. 324, Issue 20 https://doi.org/10.1001/jama.2020.21566	journal	November 2020
Diagnosis and Management of Hereditary Hemochromatosis Cabrera, Elizabeth; Crespo, Gonzalo; VanWagner, Lisa B. JAMA, Vol. 328, Issue 18 https://doi.org/10.1001/jama.2022.17727	journal	November 2022
Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis Savatt, Juliann M.; Johns, Alicia; Schwartz, Marci L. B. JAMA Network Open, Vol. 6, Issue 10 https://doi.org/10.1001/jamanetworkopen.2023.38995	journal	October 2023
Rare HFE variants are the most frequent cause of hemochromatosis in non‐c282y homozygous patients with hemochromatosis Hamdi‐Rozé, Houda; Beaumont‐Epinette, Marie‐Pascale; Ben Ali, Zeineb American Journal of Hematology, Vol. 91, Issue 12 https://doi.org/10.1002/ajh.24535	journal	August 2016
Reversibility of hepatic fibrosis in treated genetic hemochromatosis: A study of 36 cases Falize, Ludivine; Guillygomarc'h, Anne; Perrin, Michele Hepatology, Vol. 44, Issue 2 https://doi.org/10.1002/hep.21260	journal	August 2006
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity # † Gurrin, Lyle C.; Bertalli, Nadine A.; Dalton, Gregory W. Hepatology, Vol. 50, Issue 1 https://doi.org/10.1002/hep.22972	journal	July 2009
Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases Bacon, Bruce R.; Adams, Paul C.; Kowdley, Kris V. Hepatology, Vol. 54, Issue 1 https://doi.org/10.1002/hep.24330	journal	July 2011
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes Mendes, Ana Isabel; Ferro, Ana; Martins, Rute Annals of Hematology, Vol. 88, Issue 3 https://doi.org/10.1007/s00277-008-0572-y	journal	September 2008
Haemochromatosis Adams, Paul C.; Jeffrey, Gary; Ryan, John The Lancet, Vol. 401, Issue 10390 https://doi.org/10.1016/S0140-6736(23)00287-8	journal	May 2023
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network Gallego, Carlos J.; Burt, Amber; Sundaresan, Agnes S. The American Journal of Human Genetics, Vol. 97, Issue 4 https://doi.org/10.1016/j.ajhg.2015.08.008	journal	October 2015
The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis Walsh, Alissa; Dixon, Jeannette L.; Ramm, Grant A. Clinical Gastroenterology and Hepatology, Vol. 4, Issue 11 https://doi.org/10.1016/j.cgh.2006.07.009	journal	November 2006
Diagnosis and Management of Hereditary Hemochromatosis Salgia, Reena J.; Brown, Kimberly Clinics in Liver Disease, Vol. 19, Issue 1 https://doi.org/10.1016/j.cld.2014.09.011	journal	February 2015
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) Miller, David T.; Lee, Kristy; Abul-Husn, Noura S. Genetics in Medicine, Vol. 25, Issue 8 https://doi.org/10.1016/j.gim.2023.100866	journal	August 2023
Hemochromatoses Brissot, Pierre; Loréal, Olivier Journal of Hepatology, Vol. 75, Issue 3 https://doi.org/10.1016/j.jhep.2021.04.001	journal	September 2021
A previously undescribed nonsense mutation of the HFE gene Beutler, E.; Griffin, Mj; Gelbart, T. Clinical Genetics, Vol. 61, Issue 1 https://doi.org/10.1034/j.1399-0004.2002.610108.x	journal	January 2002
Hemochromatosis case definition: out of focus? Adams, Paul C. Nature Clinical Practice Gastroenterology & Hepatology, Vol. 3, Issue 4 https://doi.org/10.1038/ncpgasthep0465	journal	April 2006
The “All of Us” Research Program New England Journal of Medicine, Vol. 381, Issue 7, p. 668-676 https://doi.org/10.1056/NEJMsr1809937	journal	August 2019
The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression Feder, John N.; Tsuchihashi, Zenta; Irrinki, Alivelu Journal of Biological Chemistry, Vol. 272, Issue 22 https://doi.org/10.1074/jbc.272.22.14025	journal	May 1997
HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype‐stratified cohort study of hemochromatosis in Australian women Warne, Charles D.; Zaloumis, Sophie G.; Bertalli, Nadine A. Journal of Gastroenterology and Hepatology, Vol. 32, Issue 4 https://doi.org/10.1111/jgh.13621	journal	March 2017
HFEgenotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank Lucas, Mitchell R.; Atkins, Janice L.; Pilling, Luke C. BMJ Open, Vol. 14, Issue 3 https://doi.org/10.1136/bmjopen-2023-081926	journal	March 2024
Hereditary Hemochromatosis Variant Associations with Incident Nonliver Malignancies: 11-Year Follow-up in UK Biobank Atkins, Janice L.; Pilling, Luke C.; Torti, Suzy V. Cancer Epidemiology, Biomarkers & Prevention, Vol. 31, Issue 9 https://doi.org/10.1158/1055-9965.EPI-22-0284	journal	June 2022
Hemochromatosis classification: update and recommendations by the BIOIRON Society Girelli, Domenico; Busti, Fabiana; Brissot, Pierre Blood, Vol. 139, Issue 20 https://doi.org/10.1182/blood.2021011338	journal	May 2022
ACG Clinical Guideline: Hereditary Hemochromatosis Kowdley, Kris V.; Brown, Kyle E.; Ahn, Joseph American Journal of Gastroenterology, Vol. 114, Issue 8 https://doi.org/10.14309/ajg.0000000000000315	journal	July 2019
Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort Atkins, Janice L.; Pilling, Luke C.; Heales, Christine J. Journal of Alzheimer’s Disease, Vol. 79, Issue 3 https://doi.org/10.3233/JAD-201080	journal	February 2021
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case Zhang, Wei; Wang, Xiaoming; Duan, Weijia Frontiers in Genetics, Vol. 11 https://doi.org/10.3389/fgene.2020.00077	journal	February 2020

Similar Records

Phenotype to genotype in Neurospora crassa: Association of the scumbo phenotype with mutations in the gene encoding ceramide C9-methyltransferase

Journal Article · 2021 · Current Research in Microbial Sciences · OSTI ID:1848012

Bredeweg, Erin L.; McCluskey, Kevin; Baker, Scott E.

Microbial genotype–phenotype mapping by class association rule mining

Journal Article · 2008 · Bioinformatics · OSTI ID:1625257

Tamura, Makio; D'haeseleer, Patrik

Detecting macroevolutionary genotype–phenotype associations using error-corrected rates of protein convergence

Journal Article · 2023 · Nature Ecology and Evolution · OSTI ID:2471618

Fukushima, Kenji; Pollock, David D.

Title: Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program

Citation Formats

References (26)

Similar Records

Related Subjects