Novel mutations in the 5′-UTR of the FOLR1 gene

Clinical Chemistry and Laboratory Medicine

Volumn 44, Issue 2, 2006, Pages 161-167

  Börjel, Anna K ^a,b   Yngve, Agneta ^c   Sjöström, Michael ^c   Nilsson, Torbjörn K ^a,b  

^a ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^b ÖREBRO UNIVERSITY   (Sweden)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Folate receptor ; Homocysteine; MTHFR; Pyrosequencing; Single strand conformation polymorphism (SSCP)

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLATE RECEPTOR; FOLATE RECEPTOR ALPHA; HOMOCYSTEINE; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DELETION MUTANT; FEMALE; FOLR1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HUMAN; MALE; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

5' UNTRANSLATED REGIONS; ADOLESCENT; CARRIER PROTEINS; CHILD; FEMALE; GENETIC SCREENING; HOMOCYSTEINE; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE;

EID: 32544441249     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2006.029     Document Type: Article

References (17)

1. Kamen BA, Smith AK. A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro. Adv Drug Deliv Rev 2004;56:1085-97.
2. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylene-7 tetrahydrofolate reductase. Nat Genet 1995;10:111-3.
3. Elwood PC, Nachmanoff K, Saikawa Y, Page ST, Pacheco P, Roberts S, et al. The divergent 5′ termini of the alpha human folate receptor (hFR) mRNAs originate from two tissue-specific promoters and alternative splicing: characterization of the alpha hFR gene structure. Biochemistry 1997;36:1467-78.
4. Heil SG, van der Put NM, Trijbels FJ, Gabreels FJ, Blom HJ. Molecular genetic analysis of human folate receptors in neural tube defects. Eur J Hum Genet 1999;7:393-6.
5. Barber RC, Shaw GM, Lammer EJ, Greer KA, Biela TA, Lacey SW, et al. Lack of association between mutations in the folate receptor-alpha gene and spina bifida. Am J Med Genet 1998;76:310-7.
6. Zhang G, Zhang QY, Miao XP, Lin DX, Lu YY. Polymorphisms and mutations of the folate receptor-alpha gene and risk of gastric cancer in a Chinese population. Int J Mol Med 2005;15:627-32.
7. Nilsson TK, Börjel AK. Novel insertion and deletion mutations in the 5′-UTR of the folate receptor-α gene: an additional contributor to hyperhomocysteinemia? Clin Biochem 2004;37:224-9.
8. Guttormsen AB, Schneede J, Ueland PM, Refsum H. Kinetics of total plasma homocysteine in subjects with hyperhomocysteinemia due to folate or cobalamin deficiency. Am J Clin Nutr 1996;63:194-202.
9. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996;93:7-9.
10. Yamada K, Chen Z, Rozen R, Matthews RG. Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. Proc Natl Acad Sci USA 2001;98:14853-8.
11. Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, et al. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas: a report of a novel MTHFR polymorphic site, G1793A. Am J Med Genet 2002;107:162-8.
12. Wakutani Y, Kowa H, Kusumi M, Nakaso K, Yasui K, Isoe-Wada K, et al. A haplotype of the methylenetetrahydrofolate reductase gene is protective against late-onset Alzheimer's disease. Neurobiol Aging 2004;25:291-4.
13. Wennlöf AH, Yngve A, Nilsson TK, Sjostrom M. Serum lipids, glucose and insulin levels in healthy school children aged 9 and 15 years from Central Sweden: reference values in relation to biological, social and lifestyle factors. Scand J Clin Lab Invest 2005;65:65-76.
14. Börjel AK, Nilsson TK, Wennlöf-Hurtig A, Yngve A, Sjöstrom M. Plasma homocysteine levels, MTHFR polymorphisms 677>T, 1298A>C, 1793G>A, and school achievement in a population sample of Swedish children. Clin Chem Lab Med 2005;43:A16.
15. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51.
16. Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, Curtis Ellison R, et al. The 1298A → C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 2001;156:409-15.
17. Ogino S, Wilson RB. Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet 2003; 48:1-7.