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Novel alleles of 31-bp VNTR polymorphism in the human cystathionine β-synthase (CBS) gene were detected in healthy Asians

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Abstract

A 31-bp variable number of tandem repeats (VNTR) polymorphism of the cystathionine β-synthase (CBS) gene was earlier reported in Caucasians of predominantly European descent and Indo-Caucasoid populations.We report here for the first time, the detection of allele 20, which was absent in Caucasian and Indo-Caucasoid populations, as a common allele present in Singaporean Chinese (6.25%), Indians (11.7%), and Malays (11.5%). Hence, allele 20 might be a specific allele for Asian populations. A relatively common allele 19 found in the Caucasian and Indo-Caucasoid populations (10.4%–10.6%) was absent in the Asian samples of this study. Therefore, allele 19 might be a specific allele for the Caucasian populations. A novel and rare allele 13, which was not reported before in the Caucasian and Indo-Caucasoid populations, was found in 0.5% of Singaporean Chinese as genotype 13/17 heterozygotes. The presence of alleles 13 and 20 were verified by DNA sequencing. There were five new genotypes (13/17, 16/20, 17/20, 18/20 and 20/20) not reported before in the Caucasian and Indo-Caucasoid populations, detected in this study. Nine genotypes (15/18, 16/18, 16/21, 17/19, 18/19, 18/21, 19/19, 19/21 and 21/21) which were present in the Caucasian and/or Indo-Caucasoid populations were absent in this study. Our results showed that CBS 31-bp VNTR polymorphism has a distinct genetic difference in allele and genotype frequencies between the European Caucasians, Indo-Caucasoid and Asian populations.

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References

  • Afman L. A., Lievers K. J. A., Kluijtmans L. A. J., Trijbels F. J. M. and Blom H. J. 2003 Gene-gene interaction between the cystathionine β-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 667CT polymorphism on homocysteine levels and risk for neural tube defects. Mol. Genet. Metab. 78, 211–215.

    Article  PubMed  CAS  Google Scholar 

  • Beyer K., Lao J. I., Carrato C., Rodriguez-Vila A., Latorre P., Matar M. et al. 2004 Cystathionine beta synthase as a risk factor for Alzheimer disease. Curr. Alzheimer Res. 1, 127–133.

    Article  PubMed  CAS  Google Scholar 

  • Beyer K., Lao J. I., Latorre P. and Ariza A. 2005 Age at onset. An essential variable for the definition of genetic risk factors for sporadic Alzheimer’s disease. Ann. N. Y. Acad. Sci. 1057, 260–278.

    Article  PubMed  CAS  Google Scholar 

  • Bostom A. G., Jacques P. F., Nadeau M. R., Williams R. R., Ellison R. C. and Selhub J. 1995 Post-methionine load hyperhomocysteinemia in persons with normal fasting total plasma homocysteine: initial results from The NHLBI family heart study. Atherosclerosis 116, 147–151.

    Article  PubMed  CAS  Google Scholar 

  • Dutta S., Chatterjee A., Sinha S., Chattopadhyay A. and Mukhopadhyay K. 2009 Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata. Neurosci. Lett. 453, 214–218.

    Article  PubMed  CAS  Google Scholar 

  • Finkelstein J. D. and Martin J. J. 1984 Methionine metabolism in mammals. Distributions of homocysteine between competing pathways. J. Biol. Chem. 259, 9508–9513.

    PubMed  CAS  Google Scholar 

  • Lievers K. J., Kluijtmans L. A., Heil S. G., Boers G. H., Verhoel P., van Oppenraay-Emmerzaa D. et al. 2001 A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. Eur. J. Hum. Genet. 9, 583–589.

    Article  PubMed  CAS  Google Scholar 

  • Lievers K. J. A., Kluijtmans L. A. J., Blom H. J., Wilson P. W., Selhub J. and Ordovas J. M. 2006 Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the framingham offspring study. Eur. J. Hum. Genet. 14, 1125–1129.

    Article  PubMed  CAS  Google Scholar 

  • Verhoef P., Kok F. J., Kruyssen D. A. C. M., Schouten E. G., Witteman J. C. M., Grobbee D. E. et al. 1997 Plasma total homocysteine, B vitamins, and risk of coronary atherosclerosis. Arterioscler. Thromb. Vasc. Biol. 17, 989–995.

    Article  PubMed  CAS  Google Scholar 

  • Yang F., Hanson N. Q., Schwichtenberg K. and Tsai M. Y. 2000 Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing. Am. J. Med. Genet. 95, 385–390.

    Article  PubMed  CAS  Google Scholar 

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  1. Natural Sciences and Science Education, National Institute of Education, Nanyang Technological University, 1 Nanyang Walk, Singapore, 637616, Republic of Singapore

    Yik-Yuen Gan & Chuan-Fei Chen

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  1. Yik-Yuen Gan
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  2. Chuan-Fei Chen
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Correspondence to Yik-Yuen Gan.

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Gan, YY., Chen, CF. Novel alleles of 31-bp VNTR polymorphism in the human cystathionine β-synthase (CBS) gene were detected in healthy Asians. J Genet 89, 449 (2010). https://doi.org/10.1007/s12041-010-0063-5

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  • DOI: https://doi.org/10.1007/s12041-010-0063-5

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