Frequency of HNF4A-P I463V variant in the tunisian North-African population and its relation with diabetes mellitus

Iranian Journal of Public Health

Volumn 44, Issue 3, 2015, Pages 396-403

  Amara, Abdelbasset ^a,b,c   Charfeddine, Ilhem Ben ^b,c   Ghédir, Houda ^b,c   Mamaï, Ons ^b,c   Jemni Yacoub, Saloua ^d   Chaieb, Larbi ^b   Saad, Ali ^b   Chadli Chaieb, Molka ^a,b   Gribaa, Moez ^b  

^a UNIVERSITY OF SOUSSE   (Tunisia)

^b FARHAT HACHED HOSPITAL   (Tunisia)

^c UNIVERSITY OF MONASTIR   (Tunisia)

^d Regional Center of Blood Transfusion of Sousse   (Tunisia)

Author keywords

HNF4A p.I463V; In silico; MODY; Mutation; Polymorphism; Rs147638455; Tunisia; Type 2 diabetes

Indexed keywords

EID: 84936110705     PISSN: 22516085     EISSN: 22516093     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Ryffel GU (2001). Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. J Mol Endocrinol, 27:11-29.
2. Stoffel M, Duncan SA (1997). The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A, 94:13209-14.
3. Chen WS, Manova K, Weinstein DC, Duncan SA, Plump AS, Prezioso VR, Bachvarova RF, Darnell JE. (1994). Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos. Genes Dev, 8:2466-77.
4. Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njolstad PR, Ellard S, Hattersley AT (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes, 57:1745-52.
5. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI (1996). Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature, 384:458-60.
6. Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K (2008). Persistent hyperinsulinemic hyp-oglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes, 57:1659-63.
7. Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha (HNF1A) and 4 Alpha (HNF4A) in Maturity-Onset Diabetes of the Young (MODY) and Hyperinsulinaemic Hypoglycaemia. Hum Mutat.
8. Love-Gregory L, Permutt MA (2007). HNF4A genetic variants: role in diabetes. Curr Opin Clin Nutr Metab Care, 10:397-402.
9. Narayan KM, Boyle JP, Geiss LS, Saaddine JB, Thompson TJ (2006). Impact of recent increase in incidence on future diabetes burden: U.S., 2005-2050. Diabetes Care, 29:2114-6.
10. Stumvoll M, Goldstein BJ, van Haeften TW (2005). Type 2 diabetes: principles of pathogenesis and therapy. Lancet, 365:1333-46.
11. Vaxillaire M, Froguel P (2008). Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev, 29:254-64.
12. Malecki MT, Yang Y, Antonellis A, Curtis S, Warram JH, Krolewski AS (1999). Ide-ntification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus. Diabet Med, 16:193-200.
13. Amara A, Chadli-Chaieb M, Ghezaiel H, Philippe J, Brahem R, Dechaume A, Saad A, Chaieb L, Froguel P, Gribaa M, Vaxillaire M (2012). Familial early-onset diabetes is not a typical MODY in several Tunisian patients. Tunis Med, 90:882-7.
14. Roumen L, Sanders MP, Pieterse K, Hilbers PA, Plate R, Custers E, de Gooyer M, Smits JF, Beugels I, Emmen J, Ottenheijm HC, Leysen D, Hermans JJ (2007). Construction of 3D models of the CYP11B family as a tool to predict ligand binding characteristics. J Comput Aided Mol Des, 21:455-71.
15. Wang LL, Li Y, Zhou SF (2009). A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide poly-morphisms in human cytochromes P450. Drug Metab Dispos, 37:977-91.
16. Amara A, Chadli-Chaieb M, Chaieb L, Saad A, Gribaa M (2014). Challenges for Molecular Diagnosis of Familial Early-Onset Diabetes in Unexplored Populations. Iran J Public Health, 43:1011-1013.
17. Eeckhoute J, Briche I, Kurowska M, Formstecher P,Laine B (2006). Hepatocyte nuclear factor 4 alpha ligand binding and F domains mediate interaction and transcriptional synergy with the pancreatic islet LIM HD transcription factor Isl1. J Mol Biol, 364:567-81.
18. Hani EH, Suaud L, Boutin P, Chevre JC, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, Bell GI, Laine B, Froguel P (1998). A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. J Clin Invest, 101:521-6.