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Interaction between HFE and haptoglobin polymorphisms and its relation with plasma glutathione levels in obese children
Corresponding Author(s) : Angela Inacio
Cellular and Molecular Biology,
Vol. 65 No. 2: Issue 2
Abstract
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- Abarca-Gómez L, Abdeen ZA, Hamid ZA, Abu-Rmeileh NM, Acosta-Cazares B, Acuin 349 C, et al. Worldwide trends in body-mass index, underweight, overweight, and obesity 350 from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 351 128·9 million children, adolescents, and adults. Lancet 2017; 390:2627–2642
- Beckers S, Zegers D, de Freitas F, Mertens IL, Van Gaal LF, Van Hul W. Association 353 study of MC4R with complex obesity and replication of the rs17782313 association 354 signal. Mol Genet Metab 2011; 103:71–75
- Ebbeling CB, Pawlak DB, Ludwig DS. Childhood obesity: Public-health crisis, common 356 sense cure. Lancet 2002; 360:473–482
- Meister A. New Developments in Glutathione Metabolism and Their Potential 358 Application in Therapy. Hepatology 1984; 4:739–742 359
- Sies H. Glutathione and its role in cellular functions. Free Radic Biol Med 1999; 360 27:916–921
- Hammond CL, Lee TK, Ballatori N. Novel roles for glutathione in gene expression, cell 362 death, and membrane transport of organic solutes. J Hepatol 2001; 34:946–954
- Schafer FQ1, Buettner GR. Redox environment of the cell as viewed through the redox 364 state of the glutathione disulfide/glutathione couple. Free Radic Biol Med 2001; 365 30:1191–1212
- Ballatori N, Hammond CL, Cunningham JB, Krance SM, Marchan R. Molecular 367 mechanisms of reduced glutathione transport: Role of the MRP/CFTR/ABCC and 368 OATP/SLC21A families of membrane proteins. Toxicol Appl Pharmacol 2005; 369 204:238–255
- Rahman I, MacNee W. Regulation of redox glutathione levels and gene transcription in 371 lung inflammation: therapeutic approaches. Free Radic Biol Med 2000; 28:1405–1420
- Traverso N, Ricciarelli R, Nitti M, Marengo B, Furfaro AL, Pronzato MA et al. Role of 373 Glutathione in Cancer Progression and Chemoresistance. Oxid Med Cell Longev 2013; 374 2013:1–10
- Sentellas S, Morales-Ibanez O, Zanuy M, Albertí JJ. GSSG/GSH ratios in cryopreserved 376 rat and human hepatocytes as a biomarker for drug induced oxidative stress. Toxicol Vitr 377 2014; 28:1006–1015
- Gaastra B, Glazier J, Bulters D, Galea I. Haptoglobin Genotype and Outcome after 379 Subarachnoid Haemorrhage: New Insights from a Meta-Analysis. Oxid Med Cell 380 Longev 2017:1–9
- Fain JN, Bahouth SW, Madan AK. Haptoglobin release by human adipose tissue in 382 primary culture. J Lipid Res 2004; 45:536–542
- Van Vlierberghe H, Langlois M, Delanghe J. Haptoglobin polymorphisms and iron 384 homeostasis in health and in disease. Clin Chim Acta 2004;345:35–42
- Miller YI, Altamentova SM, Shaklai N. Oxidation of low-density lipoprotein by 386 hemoglobin stems from a heine- initiated globin radical: Antioxidant role of haptoglobin. 387 Biochemistry 1997; 36:12189–12198
- Yang F, Ghio AJ, Herbert DC, Weaker FJ, Walter CA, Coalson JJ. Pulmonary 389 expression of the human haptoglobin gene. Am J Respir Cell Mol Biol 2000; 23:277–390
- Langlois MR, Delanghe JR. Biological and clinical significance of haptoglobin 392 polymorphism in humans. Clin Chem 1996; 42:1589–1600
- Barton JC, Edwards CQ, Acton RT. HFE gene: Structure, function, mutations, and 394 associated iron abnormalities. Gene 2015; 574:179–192
- Tolosano E, Fagoonee S, Garuti C, Andrews NC, Altruda F, Pietrangelo A. Haptoglobin 396 modifies the hemochromatosis phenotype in mice. Blood 2005; 105:3353–3355
- Li S-H, Zhao H, Ren Y-Y, Liu YZ, Song G, Ding P et al. The H63D Mutation of the 398 Hemochromatosis Gene is Associated with Sustained Virological Response in Chronic 399 Hepatitis C Patients Treated with Interferon-Based Therapy: A Meta-Analysis. Tohoku J 400 Exp Med 2012; 226:293–299
- Hissin PJ, Hilf R. A fluorometric method for determination of oxidized and reduced 402 glutathione in tissues. Anal Biochem 1976; 74:214–226
- Linke RP. Typing and subtyping of haptoglobin from native serum using disc gel 404 electrophoresis in alkaline buffer: Application to routine screening. Anal Biochem 1984; 405 141:55–61
- Lahiri DK, Numberger JI (1991). A rapid non-enzymatic method for the preparation of 407 HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444
- Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of 409 putative haemochromatosis mutations. J Med Genet 1997; 34:275–278
- Dandona P, Aljada A, Chaudhuri A, Mohanty P, Garg R. Metabolic syndrome: A 411 comprehensive perspective based on interactions between obesity, diabetes, and 412 inflammation. Circulation 2005; 111:1448–1454
- Constantin A, Constantinescu E, Dumitrescu M, Calin A, Popov D. Effects of ageing on 414 carbonyl stress and antioxidant defense in RBCs of obese Type 2 diabetic patients. J Cell 415 Mol Med 2005; 9:683–691
- Mohn A, Catino M, Capanna R, Giannini C, Marcovecchio M, Chiarelli F. Increased 417 oxidative stress in prepubertal severely obese children: effect of a dietary restriction-418 weight loss program. J Clin Endocrinol Metab 2005; 90:2653–2658
- Vincent HK, Innes KE, Vincent KR. Oxidative stress and potential interventions to 420 reduce oxidative stress in overweight and obesity. Diabetes, Obes Metab 2007; 9:813–421 839
- Codoñer-Franch P, Pons-Morales S, Boix-García L, Valls-Bellés V. Oxidant/antioxidant 423 status in obese children compared to pediatric patients with type 1 diabetes mellitus. 424 Pediatr Diabetes 2010; 11:251–257
- Sastre J, Pallardb FV, Llopis J, Furukawa T, Viña JR, Viña J. Glutathione depletion by 426 hyperphagia-induced obesity. Life Sci 1989; 45:183–187
- Marinho C, Alho I, Oliveira J, Rego C, Guerra A, Bicho M. A sobrecarga oxidante como 428 factor de risco associado í obesidade : relaçí£o com o glutationo plasmático e com o 429 fenótipo da haptoglobina. Acta Pediátrica Port 2018; 39:57–61
- Codoñer-Franch P, López-Jaén AB, De La Mano-Hernández A, Sentandreu E, Simó-431 Jordá R, Valls-Bellés V. Oxidative markers in children with severe obesity following 432 low-calorie diets supplemented with mandarin juice. Acta Paediatr 2010; 99:1841–1846
- Pastore A, Ciampalini P, Tozzi G, Pecorelli L, Passarelli C, Bertini E et al. All 434 glutathione forms are depleted in blood of obese and type 1 diabetic children. Pediatr 435 Diabetes 2012; 13:272–277
- Asleh R, Guetta J, Kalet-Litman S, Miller-Lotan R, Levy AP. Haptoglobin genotype- 437 and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo. 438 Circ Res 2005; 96:435–441
- Armaly Z, El Qader AA, Jabbour A, Hassan K, Ramadan R, Bowirrat A et al. Effects of 440 carnitine on oxidative stress response to intravenous iron administration to patients with 441 CKD: Impact of haptoglobin phenotype. BMC Nephrol 2015; 16:135
- Costacou T, Evans RW, Orchard TJ. Does the Concentration of Oxidative and 443 Inflammatory Biomarkers Differ by Haptoglobin Genotype in Type 1 Diabetes? 444 Antioxid Redox Signal 2015; 23:1439–1444
- Van Vlierberghe H, Langlois M, Delanghe J, Horsmans Y, Michielsen P, Henrion J, et 446 al. Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic 447 patients. J Hepatol 2001; 35:707–711
- Langlois MR, Martin ME, Boelaert JR, Beaumont C, Taes YE, De Buyzere ML et al. 449 The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males. 450 Clin Chem 2000; 46:1619–1625
- Delanghe JR, Langlois MR. Haptoglobin polymorphism and body iron stores. Clin 452 Chem Lab 2002; Med 40:212–216
- Bamm V V., Tsemakhovich VA, Shaklai M, Shaklai N. Haptoglobin Phenotypes Differ 454 in Their Ability to Inhibit Heme Transfer from Hemoglobin to LDL. Biochemistry 2001; 455 43:3899–3906
- Restagno G, Lombardo F, Ghiglione P, Calvo A, Cocco E, Sbaiz L. HFE H63D 457 polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin. 458 J Neurol Neurosurg Psychiatry 2007; 78:327
- Zhang A, Park SK, Wright RO, Mukherjee B, Nie H, Sparrow D. HFE H63D 460 polymorphism as a modifier of the effect of cumulative lead exposure on pulse pressure: 461 The normative aging study. Environ Health Perspect 2010; 118:1261–1266
- Bi M, Li B, Li Q. Correlation of hemochromatosis gene mutations and cardiovascular 463 disease in hemodialysis patients. Ann Saudi Med 2013; 33:223–228
- Määttä KM, Nikkari ST, Kunnas TA. Genetic variant coding for iron regulatory protein 465 HFE contributes to hypertension, the TAMRISK study. Medicine (Baltimore) 2015: 466 94:e464
- Shen LL, Gu DY, Zhao TT, Tang CJ, Xu Y, Chen JF. Implicating the H63D 468 polymorphism in the HFE gene in increased incidence of solid cancers: A meta-analysis. 469 Genet Mol Res 2015; 14:13735–13745
- Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel 471 MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat 472 Genet 1996; 13:399–408
- Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R et al. Mutation analysis in 474 hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22:187–194
References
Abarca-Gómez L, Abdeen ZA, Hamid ZA, Abu-Rmeileh NM, Acosta-Cazares B, Acuin 349 C, et al. Worldwide trends in body-mass index, underweight, overweight, and obesity 350 from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 351 128·9 million children, adolescents, and adults. Lancet 2017; 390:2627–2642
Beckers S, Zegers D, de Freitas F, Mertens IL, Van Gaal LF, Van Hul W. Association 353 study of MC4R with complex obesity and replication of the rs17782313 association 354 signal. Mol Genet Metab 2011; 103:71–75
Ebbeling CB, Pawlak DB, Ludwig DS. Childhood obesity: Public-health crisis, common 356 sense cure. Lancet 2002; 360:473–482
Meister A. New Developments in Glutathione Metabolism and Their Potential 358 Application in Therapy. Hepatology 1984; 4:739–742 359
Sies H. Glutathione and its role in cellular functions. Free Radic Biol Med 1999; 360 27:916–921
Hammond CL, Lee TK, Ballatori N. Novel roles for glutathione in gene expression, cell 362 death, and membrane transport of organic solutes. J Hepatol 2001; 34:946–954
Schafer FQ1, Buettner GR. Redox environment of the cell as viewed through the redox 364 state of the glutathione disulfide/glutathione couple. Free Radic Biol Med 2001; 365 30:1191–1212
Ballatori N, Hammond CL, Cunningham JB, Krance SM, Marchan R. Molecular 367 mechanisms of reduced glutathione transport: Role of the MRP/CFTR/ABCC and 368 OATP/SLC21A families of membrane proteins. Toxicol Appl Pharmacol 2005; 369 204:238–255
Rahman I, MacNee W. Regulation of redox glutathione levels and gene transcription in 371 lung inflammation: therapeutic approaches. Free Radic Biol Med 2000; 28:1405–1420
Traverso N, Ricciarelli R, Nitti M, Marengo B, Furfaro AL, Pronzato MA et al. Role of 373 Glutathione in Cancer Progression and Chemoresistance. Oxid Med Cell Longev 2013; 374 2013:1–10
Sentellas S, Morales-Ibanez O, Zanuy M, Albertí JJ. GSSG/GSH ratios in cryopreserved 376 rat and human hepatocytes as a biomarker for drug induced oxidative stress. Toxicol Vitr 377 2014; 28:1006–1015
Gaastra B, Glazier J, Bulters D, Galea I. Haptoglobin Genotype and Outcome after 379 Subarachnoid Haemorrhage: New Insights from a Meta-Analysis. Oxid Med Cell 380 Longev 2017:1–9
Fain JN, Bahouth SW, Madan AK. Haptoglobin release by human adipose tissue in 382 primary culture. J Lipid Res 2004; 45:536–542
Van Vlierberghe H, Langlois M, Delanghe J. Haptoglobin polymorphisms and iron 384 homeostasis in health and in disease. Clin Chim Acta 2004;345:35–42
Miller YI, Altamentova SM, Shaklai N. Oxidation of low-density lipoprotein by 386 hemoglobin stems from a heine- initiated globin radical: Antioxidant role of haptoglobin. 387 Biochemistry 1997; 36:12189–12198
Yang F, Ghio AJ, Herbert DC, Weaker FJ, Walter CA, Coalson JJ. Pulmonary 389 expression of the human haptoglobin gene. Am J Respir Cell Mol Biol 2000; 23:277–390
Langlois MR, Delanghe JR. Biological and clinical significance of haptoglobin 392 polymorphism in humans. Clin Chem 1996; 42:1589–1600
Barton JC, Edwards CQ, Acton RT. HFE gene: Structure, function, mutations, and 394 associated iron abnormalities. Gene 2015; 574:179–192
Tolosano E, Fagoonee S, Garuti C, Andrews NC, Altruda F, Pietrangelo A. Haptoglobin 396 modifies the hemochromatosis phenotype in mice. Blood 2005; 105:3353–3355
Li S-H, Zhao H, Ren Y-Y, Liu YZ, Song G, Ding P et al. The H63D Mutation of the 398 Hemochromatosis Gene is Associated with Sustained Virological Response in Chronic 399 Hepatitis C Patients Treated with Interferon-Based Therapy: A Meta-Analysis. Tohoku J 400 Exp Med 2012; 226:293–299
Hissin PJ, Hilf R. A fluorometric method for determination of oxidized and reduced 402 glutathione in tissues. Anal Biochem 1976; 74:214–226
Linke RP. Typing and subtyping of haptoglobin from native serum using disc gel 404 electrophoresis in alkaline buffer: Application to routine screening. Anal Biochem 1984; 405 141:55–61
Lahiri DK, Numberger JI (1991). A rapid non-enzymatic method for the preparation of 407 HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of 409 putative haemochromatosis mutations. J Med Genet 1997; 34:275–278
Dandona P, Aljada A, Chaudhuri A, Mohanty P, Garg R. Metabolic syndrome: A 411 comprehensive perspective based on interactions between obesity, diabetes, and 412 inflammation. Circulation 2005; 111:1448–1454
Constantin A, Constantinescu E, Dumitrescu M, Calin A, Popov D. Effects of ageing on 414 carbonyl stress and antioxidant defense in RBCs of obese Type 2 diabetic patients. J Cell 415 Mol Med 2005; 9:683–691
Mohn A, Catino M, Capanna R, Giannini C, Marcovecchio M, Chiarelli F. Increased 417 oxidative stress in prepubertal severely obese children: effect of a dietary restriction-418 weight loss program. J Clin Endocrinol Metab 2005; 90:2653–2658
Vincent HK, Innes KE, Vincent KR. Oxidative stress and potential interventions to 420 reduce oxidative stress in overweight and obesity. Diabetes, Obes Metab 2007; 9:813–421 839
Codoñer-Franch P, Pons-Morales S, Boix-García L, Valls-Bellés V. Oxidant/antioxidant 423 status in obese children compared to pediatric patients with type 1 diabetes mellitus. 424 Pediatr Diabetes 2010; 11:251–257
Sastre J, Pallardb FV, Llopis J, Furukawa T, Viña JR, Viña J. Glutathione depletion by 426 hyperphagia-induced obesity. Life Sci 1989; 45:183–187
Marinho C, Alho I, Oliveira J, Rego C, Guerra A, Bicho M. A sobrecarga oxidante como 428 factor de risco associado í obesidade : relaçí£o com o glutationo plasmático e com o 429 fenótipo da haptoglobina. Acta Pediátrica Port 2018; 39:57–61
Codoñer-Franch P, López-Jaén AB, De La Mano-Hernández A, Sentandreu E, Simó-431 Jordá R, Valls-Bellés V. Oxidative markers in children with severe obesity following 432 low-calorie diets supplemented with mandarin juice. Acta Paediatr 2010; 99:1841–1846
Pastore A, Ciampalini P, Tozzi G, Pecorelli L, Passarelli C, Bertini E et al. All 434 glutathione forms are depleted in blood of obese and type 1 diabetic children. Pediatr 435 Diabetes 2012; 13:272–277
Asleh R, Guetta J, Kalet-Litman S, Miller-Lotan R, Levy AP. Haptoglobin genotype- 437 and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo. 438 Circ Res 2005; 96:435–441
Armaly Z, El Qader AA, Jabbour A, Hassan K, Ramadan R, Bowirrat A et al. Effects of 440 carnitine on oxidative stress response to intravenous iron administration to patients with 441 CKD: Impact of haptoglobin phenotype. BMC Nephrol 2015; 16:135
Costacou T, Evans RW, Orchard TJ. Does the Concentration of Oxidative and 443 Inflammatory Biomarkers Differ by Haptoglobin Genotype in Type 1 Diabetes? 444 Antioxid Redox Signal 2015; 23:1439–1444
Van Vlierberghe H, Langlois M, Delanghe J, Horsmans Y, Michielsen P, Henrion J, et 446 al. Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic 447 patients. J Hepatol 2001; 35:707–711
Langlois MR, Martin ME, Boelaert JR, Beaumont C, Taes YE, De Buyzere ML et al. 449 The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males. 450 Clin Chem 2000; 46:1619–1625
Delanghe JR, Langlois MR. Haptoglobin polymorphism and body iron stores. Clin 452 Chem Lab 2002; Med 40:212–216
Bamm V V., Tsemakhovich VA, Shaklai M, Shaklai N. Haptoglobin Phenotypes Differ 454 in Their Ability to Inhibit Heme Transfer from Hemoglobin to LDL. Biochemistry 2001; 455 43:3899–3906
Restagno G, Lombardo F, Ghiglione P, Calvo A, Cocco E, Sbaiz L. HFE H63D 457 polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin. 458 J Neurol Neurosurg Psychiatry 2007; 78:327
Zhang A, Park SK, Wright RO, Mukherjee B, Nie H, Sparrow D. HFE H63D 460 polymorphism as a modifier of the effect of cumulative lead exposure on pulse pressure: 461 The normative aging study. Environ Health Perspect 2010; 118:1261–1266
Bi M, Li B, Li Q. Correlation of hemochromatosis gene mutations and cardiovascular 463 disease in hemodialysis patients. Ann Saudi Med 2013; 33:223–228
Määttä KM, Nikkari ST, Kunnas TA. Genetic variant coding for iron regulatory protein 465 HFE contributes to hypertension, the TAMRISK study. Medicine (Baltimore) 2015: 466 94:e464
Shen LL, Gu DY, Zhao TT, Tang CJ, Xu Y, Chen JF. Implicating the H63D 468 polymorphism in the HFE gene in increased incidence of solid cancers: A meta-analysis. 469 Genet Mol Res 2015; 14:13735–13745
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel 471 MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat 472 Genet 1996; 13:399–408
Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R et al. Mutation analysis in 474 hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22:187–194