Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

Wang, Yafei; Pei, Lei; Wang, Jinfeng; Zheng, Xiaoying

doi:10.1038/jhg.2012.113

Cited by 35 publications

(37 citation statements)

References 20 publications

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“…[18,19] The reasons for these geographical gradients remain unclear because many factors, including migratory histories, nutrients intake (especially folic acid, vitamin B 2 , and vitamin B 12 ), disease, and environmental exposures (such as ultroviolet radiation), may play a role in the propagation of the 2 alleles. [21,38] …”

Section: Discussionmentioning

confidence: 99%

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

et al. 2016

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Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are, independently and/or in combination, associated with many disorders. However, data on the combined genotype and haplotype distributions of the 2 polymorphisms in Chinese population were limited.We recruited 13,473 adult women from 9 Chinese provinces, collected buccal cell samples, and determined genotypes, to estimate the combined genotype and haplotype distributions of the MTHFR C677T and A1298C polymorphisms.In the total sample, the 6 common combined genotypes were CT/AA (29.5%), TT/AA (21.9%), CC/AA (15.4%), CC/AC (14.9%), CT/AC (13.7%), and CC/CC (3.4%); the 3 frequent haplotypes were 677T-1298A (43.6%), 677C-1298A (37.9%), and 677C-1298C (17.6%). Importantly, we observed that there were 51 (0.4%) individuals with the CT/CC genotype, 92 (0.7%) with the TT/AC genotype, 17 (0.1%) with the TT/CC genotype, and that the frequency of the 677T-1298C haplotype was 0.9%. In addition, the prevalence of some combined genotypes and haplotypes varied among populations residing in different areas and even showed apparent geographical gradients. Further linkage disequilibrium analysis showed that the D’ and r2 values were 0.883 and 0.143, respectively.In summary, the findings of our study provide further strong evidence that the MTHFR C677T and A1298C polymorphisms are usually in trans and occasionally in cis configurations. The frequencies of mutant genotype combinations were relatively higher in Chinese population than other populations, and showed geographical variations. These baseline data would be useful for future related studies and for developing health management programs.

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Section: Discussionmentioning

confidence: 99%

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

et al. 2016

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“…MTHFR C677T has also been proposed to interact with environmental factors to confer selective pressure; for example, a correlation with ultraviolet radiation exposure has been proposed, which is thought to partly explain the North-to-South gradient of this risk variant gradient in Europe (Yafei et al 2012; Cordain and Hickey 2006). A similar phenomenon may be related to the inverse gradient observed for MTRR A66C for which higher frequencies of MTRR 66C are found in northern Europe (44 % in Finland) compared with southern Europe (19 % in Italy).…”

Section: Discussionmentioning

confidence: 99%

Geographical and ethnic distribution of single nucleotide polymorphisms within genes of the folate/homocysteine pathway metabolism

et al. 2014

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High levels of plasma homocysteine are associated with an increased risk of many health conditions influenced by both environmental and genetic factors. The objective of this study was to provide the geographical distribution of folate pathway genetic polymorphisms in Mexico and the comparison with the reported frequencies in different continental populations. This study included the analysis of the genotypic frequencies of eight polymorphisms in genes of the folate/homocysteine metabolic pathway in 1,350 Mestizo and Amerindian subjects from different regions in Mexico and 836 individuals from European, African and Asian populations of the 1,000 Genomes Project. In Mexican Mestizo and Amerindian populations, the MTHFR C677T risk genotype (TT) was highly prevalent (frequency: 25 and 57 %, respectively). In Mestizos, the frequency showed clear regional variation related to ancestry; the Guerrero subpopulation with the highest Amerindian contribution had the highest TT frequency (33 %). The MTHFD1 G1958A AA risk genotype was also enriched in Mexican Mestizos and Amerindians (frequency: 34 and 58 %, respectively), whereas in African and Asian ancestry populations the frequency for AA was low (~4 %). All together risk genotypes showed regional differences, and Sonora had significantly different genetic frequencies compared with the other regions (P value <0.05). Our study illustrates differential geographical distribution of the risk variants in the folate/homocysteine metabolic pathway relative to ethnic background. This work supports that certain areas of the world have increased needs for folic acid and vitamin B supplementation, and this information needs to be considered in public health guidelines and eventually policies.Electronic supplementary materialThe online version of this article (doi:10.1007/s12263-014-0421-7) contains supplementary material, which is available to authorized users.

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“…Further, as per the global evolutionary model of natural selection on MTHFR C677T polymorphism, the favourable climate in the temperate zone provided plentiful vegetable foods (Yafei et al, 2012). According to McColl (2005), the Northern temperate zone extends from 23.5 north latitude to 66.5 northern latitude.…”

Section: Resultsmentioning

confidence: 99%

“…These altitudes are said to be exposed to more ultra-violet radiation (Liley & McKenzie, 2006). According to available literature, the MTHFR 677T allele has a selective disadvantage among populations exposed to UV radiations (Yafei et al, 2012). Thus, taking into consideration high and middle altitude habitat, Gaddis are expected to have a low frequency of T-allele.…”

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confidence: 99%

Methylenetetrahydrofolate reductase (MTHFR)C677Tpolymorphism among Gaddi tribe of Indian state of Himachal Pradesh

Khan

Kallur

Kumar

et al. 2014

Annals of Human Biology

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A total of 486 samples (141 males and 345 females) were randomly enrolled from the individuals aged 25-75 years who were unrelated up to first cousin. Among Gaddis, genotype frequencies of CC, CT and TT were 67.90%, 27.78% and 4.32%, respectively. Among males and females distribution of genotype frequencies also followed a similar trend. The studied population was in Hardy-Weinberg equilibrium (χ(2 )= 2.213, df = 1, p = 0.136). Frequency of mutant T-allele in the Gaddi population was found to be 0.183, which might be due to European ancestry, endogamous nature and selection.

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Is the prevalence of MTHFR C677T polymorphism associated with ultraviolet radiation in Eurasia?

Cited by 35 publications

References 20 publications

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms

Geographical and ethnic distribution of single nucleotide polymorphisms within genes of the folate/homocysteine pathway metabolism

Methylenetetrahydrofolate reductase (MTHFR)C677Tpolymorphism among Gaddi tribe of Indian state of Himachal Pradesh

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