Prevalence of MTHFR C677T and A1298C Mutations and Thrombophilia in Puerto Rico

Morales-Borges, Raúl H

doi:10.4172/2155-9864.1000213

Cited by 4 publications

(7 citation statements)

References 7 publications

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“…In a previous report of a retrospective review study by Morales-Borges, the frequency of MTHFR polymorphisms among Puerto Ricans patients in an ambulatory practice of community-based mixed hematology and medical oncology was 40% [42]. This was in good concordance with published data that states the MTHFR variants among Hispanics may be higher than in other reported groups [43].…”

Section: Thrombophiliasupporting

confidence: 85%

“…This cross-sectional study of medical records review was aimed at determining the prevalence of MTHFR polymorphisms in this Puerto Rican cohort and their relationship with thrombophilia. Strikingly, 70% of cases who carried a polymorphism on the MTHFR locus also had another genetic disorder such as factor V leiden mutation, lupus anticoagulant and deficiencies of antithrombin III and/or protein C and S [42].…”

Section: Thrombophiliamentioning

confidence: 99%

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

et al. 2019

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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.

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Section: Thrombophiliasupporting

confidence: 85%

Section: Thrombophiliamentioning

confidence: 99%

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

et al. 2019

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“…11 The 677C>T polymorphism shows wide regional and ethnic variation, and prevalence is 2%-21%. 15 On the other hand,the 1298A>C mutation does not show as much population variance: its prevalence is more uniform within currently studied groups. 15 In our study, MTHFR had the highest prevalence among the studied genetic variants.…”

Section: Mthfrmentioning

confidence: 94%

“…15 On the other hand,the 1298A>C mutation does not show as much population variance: its prevalence is more uniform within currently studied groups. 15 In our study, MTHFR had the highest prevalence among the studied genetic variants. It was estimated to be mutated in 71.7% of screened participants.…”

Section: Mthfrmentioning

confidence: 94%

Prevalence and Multiplicity of Thrombophilia Genetic Polymorphisms of FV, MTHFR, FII, and PAI-I: A Cross-Sectional Study on a Healthy Jordanian Population

Al-Zoubi

Alrabadi

Kheirallah

et al. 2021

IJGM

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Background: FV, MTHFR, II, and PAI-I are the most common genes associated with thrombophilia genetic variants, which vary among different populations and ethnic groups.Little is known about the prevalence and multiplicity of these variants in Jordan. The aim of this study was to estimate the prevalence and multiplicity of the FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G variants among healthy Jordanians. Methods: This cross-sectional study was conducted on randomly selected healthy Jordanian participants. Non-Jordanians and those with a history of arterial/venous thrombosis, atherosclerosis, or a history of recurrent abortions were excluded from the study. PCR was used to detect variants in DNA extracted from participants' blood samples. Results: A total of 300 subjects were screened: 170 (56.7%) females with an average age of 27.78±9.32 years and 130 (43.3%) males with an average age of 29.88±8.55 years. Genetic variants (at least one) were found in 75% of the subjects (81.2% among females and 66.9% among men), while 64.7%, 52%, and 12% were found to have at least two, three, and four variants, respectively. Overall, 21%, 29%, 54.3%, 27.3%, 7.7%, and 66% of participants were found to have FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G gene variants, respectively. Conclusion: Three-quarters of our population had at least one of the thrombophilia genetic variants, and most had more than one variant. The most common variants detected were associated with MTHFR, followed by PAI-I, FV, and then II. We observed that females had higher prevalence estimates than males. However, multiplicity among males was significantly higher than females. Our findings indicated noticeable differences in prevalence estimates compared with other populations.

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“…Cardiovascular ranked second with Puerto Rico [25][26][27][62][63][64] and Costa Rica [11,15,16,50,60,65,113] as the main contributors. Neurology/psychiatry placed third with a greater contribution of the Caribbean islands of Curaçao [85,86,110], Martinique [87], Jamaica [56,61], Cuba [82] and Puerto Rico [35,36,66,95] (Figure 3).…”

Section: Pharmacogenetic Research In Central America and The Caribbean mentioning

confidence: 99%

Pharmacogenetic Research Activity in Central America and the Caribbean: A Systematic Review

et al. 2016

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Aim: The present review was aimed at analyzing the pharmacogenetic scientific activity in Central America and the Caribbean. Materials & methods: A literature search for pharmacogenetic studies in each country of the region was conducted on three databases using a list of the most relevant pharmacogenetic biomarkers including ‘phenotyping probe drugs’ for major drug metabolizing enzymes. The review included 132 papers involving 47 biomarkers and 35,079 subjects (11,129 healthy volunteers and 23,950 patients). Results: The country with the most intensive pharmacogenetic research was Costa Rica. The most studied medical therapeutic area was oncology, and the most investigated biomarkers were CYP2D6 and HLA-A/B. Conclusion: Research activity on pharmacogenetics in Central American and the Caribbean populations is limited or absent. Therefore, strategies to promote effective collaborations, and foster interregional initiatives and research efforts among countries from the region could help for the rational clinical implementation of pharmacogenetics and personalized medicine.

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Prevalence of MTHFR C677T and A1298C Mutations and Thrombophilia in Puerto Rico

Cited by 4 publications

References 7 publications

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

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

Prevalence and Multiplicity of Thrombophilia Genetic Polymorphisms of FV, MTHFR, FII, and PAI-I: A Cross-Sectional Study on a Healthy Jordanian Population

Pharmacogenetic Research Activity in Central America and the Caribbean: A Systematic Review

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