Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population

被引:37
作者
Almawi, WY
Finan, RR
Tamim, H
Daccache, JL
Irani-Hakime, N
机构
[1] Arabian Gulf Univ, Coll Med & Med Sci, Dept Med, Manama, Bahrain
[2] Univ St Joseph, Fac Med, Beirut, Lebanon
[3] Amer Univ Beirut, Fac Hlth Sci, Beirut, Lebanon
[4] St Georges Univ Hosp, Beirut, Lebanon
[5] Univ Balamand, Beirut, Lebanon
关键词
thrombosis; MTHFR; mutation; PCR; prevalence;
D O I
10.1002/ajh.20047
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In view of its role in precipitating mild hyperhomocysteinemia as well as being a risk factor for vascular thrombosis, we investigated the frequency of the C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene among 589 healthy Lebanese subjects by PCR-RFLP analysis (Hinfl digestion) and compared them with those of other countries of Caucasian and non-Caucasian origin. The prevalence of the mutated homozygous (T/T) and heterozygous (C/T) C677T MTHFR genotype was 11.04% and 39.73%, respectively, giving an allele frequency of 0.309. While the prevalence of the T/T genotype was similar with respect to gender, higher prevalence was noted among Christian (13.08%) compared to Moslem (7.66%) subjects (P < 0.001), and heterogeneity in its distribution was seen in the different Lebanese provinces, and was directly related to the Christian/Moslem composition of each province. The distribution of the MTHFR C677T in Lebanon is unique with regard to its higher occurrence among Christians compared to Moslems, adding to the existing body of literature on the heterogeneity of its prevalence and distribution. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:85 / 87
页数:3
相关论文
共 10 条
[1]  
D'Angelo A, 2000, THROMB HAEMOSTASIS, V83, P563
[2]   The diagnostic value of serum homocysteine concentration as a risk factor for coronary artery disease [J].
Dierkes, J ;
Bisse, E ;
Nauck, M ;
Orth, W ;
Mayer, H ;
Luley, C ;
Wieland, H .
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 1998, 36 (07) :453-457
[3]   A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE [J].
FROSST, P ;
BLOM, HJ ;
MILOS, R ;
GOYETTE, P ;
SHEPPARD, CA ;
MATTHEWS, RG ;
BOERS, GJH ;
DENHEIJER, M ;
KLUIJTMANS, LAJ ;
VANDENHEUVEL, LP ;
ROZEN, R .
NATURE GENETICS, 1995, 10 (01) :111-113
[4]   Plasma homocysteine as a risk factor for vascular disease - The European concerted action project [J].
Graham, IM ;
Daly, LE ;
Refsum, HM ;
Robinson, K ;
Brattstrom, LE ;
Ueland, PM ;
PalmaReis, RJ ;
Boers, GHJ ;
Sheahan, RG ;
Israelsson, B ;
Uiterwaal, CS ;
Meleady, R ;
McMaster, D ;
Verhoef, P ;
Witteman, J ;
Rubba, P ;
Bellet, H ;
Wautrecht, JC ;
deValk, HW ;
Luis, ACS ;
ParrotRoulaud, FM ;
Tan, KS ;
Higgins, I ;
Garcon, D ;
Medrano, MJ ;
Candito, M ;
Evans, AE ;
Andria, G .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 277 (22) :1775-1781
[5]   Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations [J].
Jacques, PF ;
Bostom, AG ;
Williams, RR ;
Ellison, RC ;
Eckfeldt, JH ;
Rosenberg, IH ;
Selhub, J ;
Rozen, R .
CIRCULATION, 1996, 93 (01) :7-9
[6]   Plasma homocysteine level and development of coronary artery disease [J].
Kawashiri, M ;
Kajinami, K ;
Nohara, A ;
Yagi, K ;
Inazu, A ;
Koizumi, J ;
Haraki, T ;
Takegoshi, T ;
Mabuchi, H .
CORONARY ARTERY DISEASE, 1999, 10 (07) :443-447
[7]   High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico:: A country with a very high prevalence of neural tube defects [J].
Mutchinick, OM ;
López, MA ;
Luna, L ;
Waxman, J ;
Babinsky, VE .
MOLECULAR GENETICS AND METABOLISM, 1999, 68 (04) :461-467
[8]  
NISHIO H, 1996, JPN J HUM GENET, V41, P24
[9]   Ethnic differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in healthy Israeli populations [J].
Pollak, RD ;
Friedlander, Y ;
Pollak, A ;
Idelson, M ;
Bejarano-Achache, I ;
Blumenfeld, A .
GENETIC TESTING, 2000, 4 (03) :309-311
[10]   The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans [J].
Rosenberg, N ;
Murata, M ;
Ikeda, Y ;
Opare-Sem, O ;
Zivelin, A ;
Geffen, E ;
Seligsohn, U .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :758-762