Ethnogeographic Prevalence and Implications of the 677C>T and 1298A>C MTHFR Polymorphisms in Us Primary Care Populations

Abstract

Aim: Variants of the MTHFR gene have been associated with a wide range of diseases. Materials & methods: The present study analyzed data from clinical genotyping of MTHFR 677C>T and 1298A>C in 1405 patients in urban primary care settings. Results: Striking differences in ethnogeographic frequencies of MTHFR polymorphisms were observed. African–Americans appear to be protected from MTHFR deficiency. Hispanics and Caucasians may be at elevated risk due to increased frequencies of 677C>T and 1298A>C, respectively. Conclusion: Individuals carrying mutations for both genes were rare and doubly homozygous mutants were absent, suggesting the TTcc is extremely rare in the greater population. The results suggest multilocus MTHFR genotyping may yield deeper insight into the ethnogeographic association between MTHFR variants and disease.

Keywords:

• ethnic distributions
• genome evolution
• MTHFR haplotypes

Author contributions

JS Graydon and K Claudio contributed equally as first authors, providing data analysis and critical interpretation, performing literature reviews, and writing the article. S Baker and M Ferreira assisted with data acquisition and analysis. M Kocherla contributed technical insight into the methods used. A Roche-Lima and J Rodríguez-Maldonado contributed statistical analysis and interpretation. J Duconge provided insight into the literature and contributed to the clinical interpretation of the data and the writing of the article. G Ruaño provided critical insight in the subject from a biological as well as clinical perspective and contributed to the writing of the article.

Financial & competing interests disclosure

G Ruaño is founder and President of Genomas, Inc. JS Graydon, M Kocherla and M Ferreira were employees of Genomas, Inc. This research has been supported by Genomas internal research funds and in part by NIH (grant number SC1 HL123911), from the National Heart, Lung and Blood Institute (NHLBI), as part of the SCORE MBRS Program supported by the National Institute of General Medical Sciences (NIGMS), and U54 MD007600 from the National Institute on Minority Health and Health Disparities (NIMHD), as part of the Research centers in Minority Institutions (RCMI) Program. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that appropriate consent was obtained prior to the testing of patient samples and that all subsequent analysis was permitted by the consent provided by each patient or patient guardian agreeing to DNA testing and to the use of their deidentified information of a statistical nature for validation, research and accreditation purposes.

Additional information

Funding

G Ruaño is founder and President of Genomas, Inc. JS Graydon, M Kocherla and M Ferreira were employees of Genomas, Inc. This research has been supported by Genomas internal research funds and in part by NIH (grant number SC1 HL123911), from the National Heart, Lung and Blood Institute (NHLBI), as part of the SCORE MBRS Program supported by the National Institute of General Medical Sciences (NIGMS), and U54 MD007600 from the National Institute on Minority Health and Health Disparities (NIMHD), as part of the Research centers in Minority Institutions (RCMI) Program. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.