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Transferrin Polymorphism Influences Iron Status in Blacks
Genetic variants of human transferrin (TF) have been described, but little is known about their functional differences. We studied iron status according to TF phenotype in a healthy Zimbabwean population and in subjects at risk of African iron overload. The study population consisted of 483 nondrink...
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| Published in: | Clinical chemistry (Baltimore, Md.) Md.), 2000-10, Vol.46 (10), p.1535-1539 |
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| container_issue | 10 |
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| container_title | Clinical chemistry (Baltimore, Md.) |
| container_volume | 46 |
| creator | Kasvosve, Ishmael Delanghe, Joris R Gomo, Zvenyika A.R Gangaidzo, Innocent T Khumalo, Hlosukwazi Wuyts, Birgitte Mvundura, Elisha Saungweme, Thokozile Moyo, Victor M Boelaert, Johan R Gordeuk, Victor R |
| description | Genetic variants of human transferrin (TF) have been described, but little is known about their functional differences. We studied iron status according to TF phenotype in a healthy Zimbabwean population and in subjects at risk of African iron overload.
The study population consisted of 483 nondrinkers, 31 drinking spouse pairs, and 5 family pedigrees (n = 88) with index cases of iron overload. TF phenotypes were determined using starch gel electrophoresis. To evaluate iron status, serum iron, total iron-binding capacity (TIBC), ferritin, and soluble TF receptors were measured, and the percentage of saturation and the serum iron:TF ratio were calculated. The binding of the TF variants was studied by equilibrium dialysis.
The reference population was characterized by a high TF D allele frequency (0.050) and a complete absence of homozygous TF DD individuals. Similar allele frequencies were observed in subjects at risk of African iron overload. In the reference population, male TF CD heterozygotes had significantly lower (P |
| doi_str_mv | 10.1093/clinchem/46.10.1535 |
| format | article |
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The study population consisted of 483 nondrinkers, 31 drinking spouse pairs, and 5 family pedigrees (n = 88) with index cases of iron overload. TF phenotypes were determined using starch gel electrophoresis. To evaluate iron status, serum iron, total iron-binding capacity (TIBC), ferritin, and soluble TF receptors were measured, and the percentage of saturation and the serum iron:TF ratio were calculated. The binding of the TF variants was studied by equilibrium dialysis.
The reference population was characterized by a high TF D allele frequency (0.050) and a complete absence of homozygous TF DD individuals. Similar allele frequencies were observed in subjects at risk of African iron overload. In the reference population, male TF CD heterozygotes had significantly lower (P <0.01) values for serum iron, TIBC, TF saturation, and serum iron:TF ratio than the TF CC homozygotes; in females, only TIBC was significantly different. Overall red blood cell indices did not differ according to TF phenotype. In the population at risk of African iron overload, only serum iron:TF ratio was consistently significantly lower in TF CD phenotypes (P <0.05). After equilibrium dialysis, the amount of iron bound by TF was significantly lower (P <0.01) in TF CD individuals.
The present data demonstrate a functional difference between TF phenotypes in blacks.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1093/clinchem/46.10.1535</identifier><identifier>PMID: 11017929</identifier><identifier>CODEN: CLCHAU</identifier><language>eng</language><publisher>Washington, DC: Am Assoc Clin Chem</publisher><subject>Adult ; African Continental Ancestry Group - genetics ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Colorimetry ; Electrophoresis, Capillary ; Female ; Humans ; Iron - metabolism ; Iron Overload - genetics ; Iron Overload - metabolism ; Male ; Medical sciences ; Metabolic diseases ; Metals (hemochromatosis...) ; Middle Aged ; Nephelometry and Turbidimetry ; Other metabolic disorders ; Phenotype ; Polymorphism, Genetic ; Transferrin - genetics ; Transferrin - metabolism ; Tropical medicine</subject><ispartof>Clinical chemistry (Baltimore, Md.), 2000-10, Vol.46 (10), p.1535-1539</ispartof><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c472t-4bc9da833fdfcd3c57290d58e490b181ab8690b54d25096767a02292db3d43883</citedby><cites>FETCH-LOGICAL-c472t-4bc9da833fdfcd3c57290d58e490b181ab8690b54d25096767a02292db3d43883</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=851982$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11017929$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kasvosve, Ishmael</creatorcontrib><creatorcontrib>Delanghe, Joris R</creatorcontrib><creatorcontrib>Gomo, Zvenyika A.R</creatorcontrib><creatorcontrib>Gangaidzo, Innocent T</creatorcontrib><creatorcontrib>Khumalo, Hlosukwazi</creatorcontrib><creatorcontrib>Wuyts, Birgitte</creatorcontrib><creatorcontrib>Mvundura, Elisha</creatorcontrib><creatorcontrib>Saungweme, Thokozile</creatorcontrib><creatorcontrib>Moyo, Victor M</creatorcontrib><creatorcontrib>Boelaert, Johan R</creatorcontrib><creatorcontrib>Gordeuk, Victor R</creatorcontrib><title>Transferrin Polymorphism Influences Iron Status in Blacks</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>Genetic variants of human transferrin (TF) have been described, but little is known about their functional differences. We studied iron status according to TF phenotype in a healthy Zimbabwean population and in subjects at risk of African iron overload.
The study population consisted of 483 nondrinkers, 31 drinking spouse pairs, and 5 family pedigrees (n = 88) with index cases of iron overload. TF phenotypes were determined using starch gel electrophoresis. To evaluate iron status, serum iron, total iron-binding capacity (TIBC), ferritin, and soluble TF receptors were measured, and the percentage of saturation and the serum iron:TF ratio were calculated. The binding of the TF variants was studied by equilibrium dialysis.
The reference population was characterized by a high TF D allele frequency (0.050) and a complete absence of homozygous TF DD individuals. Similar allele frequencies were observed in subjects at risk of African iron overload. In the reference population, male TF CD heterozygotes had significantly lower (P <0.01) values for serum iron, TIBC, TF saturation, and serum iron:TF ratio than the TF CC homozygotes; in females, only TIBC was significantly different. Overall red blood cell indices did not differ according to TF phenotype. In the population at risk of African iron overload, only serum iron:TF ratio was consistently significantly lower in TF CD phenotypes (P <0.05). After equilibrium dialysis, the amount of iron bound by TF was significantly lower (P <0.01) in TF CD individuals.
The present data demonstrate a functional difference between TF phenotypes in blacks.</description><subject>Adult</subject><subject>African Continental Ancestry Group - genetics</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Colorimetry</subject><subject>Electrophoresis, Capillary</subject><subject>Female</subject><subject>Humans</subject><subject>Iron - metabolism</subject><subject>Iron Overload - genetics</subject><subject>Iron Overload - metabolism</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Middle Aged</subject><subject>Nephelometry and Turbidimetry</subject><subject>Other metabolic disorders</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic</subject><subject>Transferrin - genetics</subject><subject>Transferrin - metabolism</subject><subject>Tropical medicine</subject><issn>0009-9147</issn><issn>1530-8561</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNpNkFtLwzAYhoMobk5_gSAFQa-65dgmlzo8DAYKzuuQpqmrpu1MWsr-vZmrh6vvwPO9HzwAnCM4RVCQmbZlrdemmtFkutsxwg7AOBQYc5agQzCGEIpYIJqOwIn372GkKU-OwQghiFKBxRiIlVO1L4xzZR09N3ZbNW6zLn0VLerCdqbWxkcL19TRS6vazkcBu7VKf_hTcFQo683ZUCfg9f5uNX-Ml08Pi_nNMtY0xW1MMy1yxQkp8kLnRLMUC5gzbqiAGeJIZTwJHaM5ZlAkaZIqiLHAeUZySjgnE3C1z9245rMzvpVV6bWxVtWm6bxMMYEMCxZAsge1a7x3ppAbV1bKbSWCcmdM_hiTNPneBWPh6mKI77LK5H83g6IAXA6A8lrZIvjSpf_lOEOC40Bd76l1-bbuS2ekr5S1IRTJvu__PfwCfS6COg</recordid><startdate>20001001</startdate><enddate>20001001</enddate><creator>Kasvosve, Ishmael</creator><creator>Delanghe, Joris R</creator><creator>Gomo, Zvenyika A.R</creator><creator>Gangaidzo, Innocent T</creator><creator>Khumalo, Hlosukwazi</creator><creator>Wuyts, Birgitte</creator><creator>Mvundura, Elisha</creator><creator>Saungweme, Thokozile</creator><creator>Moyo, Victor M</creator><creator>Boelaert, Johan R</creator><creator>Gordeuk, Victor R</creator><general>Am Assoc Clin Chem</general><general>American Association for Clinical Chemistry</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20001001</creationdate><title>Transferrin Polymorphism Influences Iron Status in Blacks</title><author>Kasvosve, Ishmael ; Delanghe, Joris R ; Gomo, Zvenyika A.R ; Gangaidzo, Innocent T ; Khumalo, Hlosukwazi ; Wuyts, Birgitte ; Mvundura, Elisha ; Saungweme, Thokozile ; Moyo, Victor M ; Boelaert, Johan R ; Gordeuk, Victor R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c472t-4bc9da833fdfcd3c57290d58e490b181ab8690b54d25096767a02292db3d43883</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>African Continental Ancestry Group - genetics</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Colorimetry</topic><topic>Electrophoresis, Capillary</topic><topic>Female</topic><topic>Humans</topic><topic>Iron - metabolism</topic><topic>Iron Overload - genetics</topic><topic>Iron Overload - metabolism</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metals (hemochromatosis...)</topic><topic>Middle Aged</topic><topic>Nephelometry and Turbidimetry</topic><topic>Other metabolic disorders</topic><topic>Phenotype</topic><topic>Polymorphism, Genetic</topic><topic>Transferrin - genetics</topic><topic>Transferrin - metabolism</topic><topic>Tropical medicine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kasvosve, Ishmael</creatorcontrib><creatorcontrib>Delanghe, Joris R</creatorcontrib><creatorcontrib>Gomo, Zvenyika A.R</creatorcontrib><creatorcontrib>Gangaidzo, Innocent T</creatorcontrib><creatorcontrib>Khumalo, Hlosukwazi</creatorcontrib><creatorcontrib>Wuyts, Birgitte</creatorcontrib><creatorcontrib>Mvundura, Elisha</creatorcontrib><creatorcontrib>Saungweme, Thokozile</creatorcontrib><creatorcontrib>Moyo, Victor M</creatorcontrib><creatorcontrib>Boelaert, Johan R</creatorcontrib><creatorcontrib>Gordeuk, Victor R</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kasvosve, Ishmael</au><au>Delanghe, Joris R</au><au>Gomo, Zvenyika A.R</au><au>Gangaidzo, Innocent T</au><au>Khumalo, Hlosukwazi</au><au>Wuyts, Birgitte</au><au>Mvundura, Elisha</au><au>Saungweme, Thokozile</au><au>Moyo, Victor M</au><au>Boelaert, Johan R</au><au>Gordeuk, Victor R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Transferrin Polymorphism Influences Iron Status in Blacks</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>2000-10-01</date><risdate>2000</risdate><volume>46</volume><issue>10</issue><spage>1535</spage><epage>1539</epage><pages>1535-1539</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><coden>CLCHAU</coden><abstract>Genetic variants of human transferrin (TF) have been described, but little is known about their functional differences. We studied iron status according to TF phenotype in a healthy Zimbabwean population and in subjects at risk of African iron overload.
The study population consisted of 483 nondrinkers, 31 drinking spouse pairs, and 5 family pedigrees (n = 88) with index cases of iron overload. TF phenotypes were determined using starch gel electrophoresis. To evaluate iron status, serum iron, total iron-binding capacity (TIBC), ferritin, and soluble TF receptors were measured, and the percentage of saturation and the serum iron:TF ratio were calculated. The binding of the TF variants was studied by equilibrium dialysis.
The reference population was characterized by a high TF D allele frequency (0.050) and a complete absence of homozygous TF DD individuals. Similar allele frequencies were observed in subjects at risk of African iron overload. In the reference population, male TF CD heterozygotes had significantly lower (P <0.01) values for serum iron, TIBC, TF saturation, and serum iron:TF ratio than the TF CC homozygotes; in females, only TIBC was significantly different. Overall red blood cell indices did not differ according to TF phenotype. In the population at risk of African iron overload, only serum iron:TF ratio was consistently significantly lower in TF CD phenotypes (P <0.05). After equilibrium dialysis, the amount of iron bound by TF was significantly lower (P <0.01) in TF CD individuals.
The present data demonstrate a functional difference between TF phenotypes in blacks.</abstract><cop>Washington, DC</cop><pub>Am Assoc Clin Chem</pub><pmid>11017929</pmid><doi>10.1093/clinchem/46.10.1535</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0009-9147 |
| ispartof | Clinical chemistry (Baltimore, Md.), 2000-10, Vol.46 (10), p.1535-1539 |
| issn | 0009-9147 1530-8561 |
| language | eng |
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| source | Oxford Journals Online |
| subjects | Adult African Continental Ancestry Group - genetics Aged Aged, 80 and over Biological and medical sciences Colorimetry Electrophoresis, Capillary Female Humans Iron - metabolism Iron Overload - genetics Iron Overload - metabolism Male Medical sciences Metabolic diseases Metals (hemochromatosis...) Middle Aged Nephelometry and Turbidimetry Other metabolic disorders Phenotype Polymorphism, Genetic Transferrin - genetics Transferrin - metabolism Tropical medicine |
| title | Transferrin Polymorphism Influences Iron Status in Blacks |
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