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HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population

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dc.contributor.authorLee, Sang Hyub-
dc.contributor.authorKim, Jin-Wook-
dc.contributor.authorShin, So Hyun-
dc.contributor.authorKang, Kyoung Phil-
dc.contributor.authorChoi, Hyun Cheol-
dc.contributor.authorChoi, Sung Hee-
dc.contributor.authorPark, Kyoung Un-
dc.contributor.authorKim, Hyun Young-
dc.contributor.authorKang, Weechang-
dc.contributor.authorJeong, Sook-Hyang-
dc.date.accessioned2010-04-01T05:26:56Z-
dc.date.available2010-04-01T05:26:56Z-
dc.date.issued2008-08-07-
dc.identifier.citationDig Dis Sci. 2009 ;54(4):879-86.en
dc.identifier.issn1573-2568 (Electronic)-
dc.identifier.urihttps://hdl.handle.net/10371/62318-
dc.description.abstractThe aim of this study was to investigate HFE gene mutations, blood iron indices, and their clinical correlates in a Korean population. In 484 prospectively enrolled health-check examinees, HFE gene mutations and iron indices with clinical and laboratory variables were analyzed. Although neither the C282Y nor S65C gene mutation were found, the H63D heterozygote was detected in 41 subjects (8.5%). The mean serum ferritin and transferrin saturation (TS) were 136.2 +/- 129.8 microg/dl and 39.2 +/- 15.7%, respectively. The H63D genotype was not significantly associated with iron indices. High serum ferritin was associated with old age, the male gender, high body mass index (BMI), and the presence of nonalcoholic fatty liver disease (NAFLD). High TS was associated with the male gender and alcohol drinking. HFE gene mutation is rare; however, TS seems to be higher in Koreans compared to Caucasians or other ethnic groups. Serum ferritin reflects iron store as well as the presence of NAFLD.en
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.subjectAdulten
dc.subjectAge Factorsen
dc.subjectAsian Continental Ancestry Groupen
dc.subjectFemaleen
dc.subjectFerritins/*blooden
dc.subjectGenotypeen
dc.subjectHistocompatibility Antigens Class I/*geneticsen
dc.subjectHumansen
dc.subjectIron/*blooden
dc.subjectKoreaen
dc.subjectMaleen
dc.subjectMembrane Proteins/*geneticsen
dc.subjectMiddle Ageden
dc.subjectMutation, Missenseen
dc.subjectPolymorphism, Restriction Fragment Lengthen
dc.subjectProspective Studiesen
dc.subjectTransferrin/*metabolismen
dc.titleHFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean populationen
dc.typeArticleen
dc.contributor.AlternativeAuthor이상협-
dc.contributor.AlternativeAuthor김진욱-
dc.contributor.AlternativeAuthor신소현-
dc.contributor.AlternativeAuthor강경필-
dc.contributor.AlternativeAuthor최현철-
dc.contributor.AlternativeAuthor최성희-
dc.contributor.AlternativeAuthor박경운-
dc.contributor.AlternativeAuthor김현영-
dc.contributor.AlternativeAuthor강희창-
dc.contributor.AlternativeAuthor정숙향-
dc.identifier.doi10.1007/s10620-008-0432-6-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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