@article{0ab34a220cc542dabc40d6ed6b73714d,
title = "Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study",
abstract = "The ferroportin (FPN1) Q248H polymorphism has been associated with increased serum ferritin (SF) levels in sub-Saharan Africans and in African Americans (AA). AA participants of the HEIRS Study who did not have HFE C282Y or H63D who had elevated initial screening SF (≥ 300 μg/L in men and ≥ 200 μg/L in women) (defined as cases) were frequency-matched to AA participants with normal SF (defined as controls) to investigate the association of the Q248H with elevated SF. 10.4% of cases and 6.7% of controls were Q248H heterozygotes (P = 0.257). Q248H homozygosity was observed in 0.5% of the cases and none of the controls. The frequency of Q248H was higher among men with elevated SF than among control men (P = 0.047); corresponding differences were not observed among women. This appeared to be unrelated to self-reports of a previous diagnosis of liver disease. Men with elevated SF were three times more likely than women with elevated SF to have Q248H (P = 0.012). There were no significant differences in Q248H frequencies in men and women control participants. We conclude that the frequency of the FPN1 Q248H polymorphism is greater in AA men with elevated SF than in those with normal SF.",
keywords = "Genetics, Mutation, Transferrin saturation",
author = "Rivers, {Charles A.} and Barton, {James C.} and Gordeuk, {Victor R.} and Acton, {Ronald T.} and Speechley, {Mark R.} and Snively, {Beverly M.} and Catherine Leiendecker-Foster and Press, {Richard D.} and Adams, {Paul C.} and McLaren, {Gordon D.} and Dawkins, {Fitzroy W.} and McLaren, {Christine E.} and Reboussin, {David M.}",
note = "Funding Information: The HEIRS Study was initiated and funded by the National Heart, Lung, and Blood Institute, in conjunction with the National Human Genome Research Institute. The Study is supported by contracts N01-HC05185 (University of Minnesota); N01-HC05186, N01-CM-07003-74, and Minority CCOP (Howard University); N01-HC05188 (University of Alabama at Birmingham); N01-C05189 (Kaiser Permanente Center for Health Research); N01-HC05190 (University of California, Irvine); N01-HC05191 (London Health Sciences Centre); and N01-C05192 (Wake Forest University). Additional support was provided by the University of Alabama at Birmingham General Clinical Research Center (GCRC) grant M01-RR00032, Southern Iron Disorders Center (J.C.B.), Howard University GCRC grant M01-RR10284, Howard University Research Scientist Award UH1-HL03679-05 from the National Heart, Lung, and Blood Institute and the Office of Research on Minority Health (V.R.G.); and the General Clinical Research Center, College of Medicine, University of California, Irvine, with funds provided by the National Center for Research Resources, 5M01RR 00827-29, U.S. Public Health Service. We acknowledge the following participating HEIRS Study Investigators and Institutions: Field Centers Birmingham, AL – University of Alabama at Birmingham: Dr. Ronald T. Acton (Principal Investigator), Dr. James C. Barton (Co-Principal Investigator), Ms. Deborah Dixon, Dr. Susan Ferguson, Dr. Richard Jones, Dr. Jerry McKnight, Dr. Charles A. Rivers, Dr. Diane Tucker and Ms. Janice C. Ware. Irvine, CA – University of California, Irvine: Dr. Christine E. McLaren (Principal Investigator), Dr. Gordon D. McLaren (Co-Principal Investigator), Dr. Hoda Anton-Culver, Ms. Jo Ann A. Baca, Dr. Thomas C. Bent, Dr. Lance C. Brunner, Dr. Michael M. Dao, Dr. Korey S. Jorgensen, Dr. Julie Kuniyoshi, Dr. Huan D. Le, Dr. Miles K. Masatsugu, Dr. Frank L. Meyskens, Dr. David Morohashi, Dr. Huan P. Nguyen, Dr. Sophocles N. Panagon, Dr. Chi Phung, Dr. Virgil Raymundo, Dr. Thomas Ton, Professor Ann P. Walker, Dr. Lari B. Wenzel and Dr. Argyrios Ziogas. London, Ontario, Canada – London Health Sciences Center: Dr. Paul C. Adams (Principal Investigator), Ms. Erin Bloch, Dr. Subrata Chakrabarti, Ms. Arlene Fleischhauer, Ms. Helen Harrison, Ms. Bonnie Hogan, Ms. Kelly Jia, Dr. John Jordan, Ms. Sheila Larson, Dr. Edward Lin, Ms. Melissa Lopez, MDS Laboratories, Dr. Godfrey Moses, Ms. Lien Nguyen, Ms. Corry Pepper, Dr. Tara Power, Dr. Mark Speechley, Dr. Donald Sun and Ms. Diane Woelfle. Portland, OR and Honolulu, HI – Kaiser Permanente Center for Health Research, Northwest and Hawaii, and Oregon Health and Science University: Dr. Emily L. Harris (Principal Investigator), Dr. Mikel Aickin, Dr. Elaine Baker, Ms. Marjorie Erwin, Ms. Joan Holup, Ms. Carol Lloyd, Dr. Nancy Press, Dr. Richard D. Press, Dr. Jacob Reiss, Dr. Cheryl Ritenbaugh, Ms. Aileen Uchida, Dr. Thomas Vogt and Dr. Dwight Yim. Washington, D.C. – Howard University: Dr. Victor R. Gordeuk (Principal Investigator), Dr. Fitzroy W. Dawkins (Co-Principal Investigator), Ms. Margaret Fadojutimi-Akinsiku, Dr. Oswaldo Castro, Dr. Debra White-Coleman, Dr. Melvin Gerald, Ms. Barbara W. Harrison, Dr. Ometha Lewis-Jack, Dr. Robert F. Murray, Dr. Shelley McDonald-Pinkett, Ms. Angela Rock, Dr. Juan Romagoza and Dr. Robert Williams. Central Laboratory Minneapolis, MN – University of Minnesota and University of Minnesota Medical Center, Fairview: Dr. John H. Eckfeldt (Principal Investigator and Steering Committee Chair), Ms. Catherine Leiendecker-Foster, Dr. Ronald C. McGlennen, Mr. Greg Rynders and Dr. Michael Y. Tsai. Coordinating Center Winston-Salem, NC – Wake Forest University: Dr. David M. Reboussin (Principal Investigator), Dr. Beverly M. Snively (Co-Principal Investigator), Dr. Roger Anderson, Ms. Elease Bostic, Ms. Brenda L. Craven, Ms. Shellie Ellis, Dr. Curt Furberg, Mr. Jason Griffin, Dr. Mark Hall, Mr. Darrin Harris, Ms. Leora Henkin, Dr. Sharon Jackson, Dr. Tamison Jewett, Mr. Mark D. King, Mr. Kurt Lohman, Ms. Laura Lovato, Dr. Joe Michaleckyj, Ms. Shana Palla, Ms. Tina Parks, Ms. Leah Passmore, Dr. Pradyumna D. Phatak, Dr. Stephen Rich, Ms. Andrea Ruggiero, Dr. Mara Vitolins, Mr. Gary Wolgast and Mr. Daniel Zaccaro. NHLBI Project Office Bethesda, MD – Ms. Phyliss Sholinsky (Project Officer), Dr. Ebony Bookman, Dr. Henry Chang, Dr. Richard Fabsitz, Dr. Cashell Jaquish, Dr. Teri Manolio and Ms. Lisa O'Neill. NHGRI Project Office Bethesda, MD – Dr. Elizabeth Thomson. Dr. Jean MacCluer, Southwest Foundation for Biomedical Research, also contributed to the design of this study. ",
year = "2007",
month = may,
doi = "10.1016/j.bcmd.2006.12.002",
language = "English (US)",
volume = "38",
pages = "247--252",
journal = "Blood Cells, Molecules, and Diseases",
issn = "1079-9796",
publisher = "Academic Press Inc.",
number = "3",
}