Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population

Kumar, Jitender; Das, Swapan K.; Sharma, Priyanka; Karthikeyan, Ganesan; Ramakrishnan, Lakshmy; Sengupta, Shantanu

doi:10.1007/s10038-005-0313-1

Cited by 101 publications

(99 citation statements)

References 37 publications

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“…Vegetarians are more likely to be deficient in vitamin B6, vitamin B 12 , and folate which are the essential cofactors for homocysteine metabolism. Recent evidence strongly suggests that too little vitamin B 12 can lead to high level of homocysteine [28][29][30][31][32][33]. In our study, we have seen that weight and alcohol intake are statistically significant predictors of homocysteine (P = 0.006 and P = 0.036, respectively).…”

Section: Discussionsupporting

confidence: 58%

A Community Based Study of the Relationship Between Homocysteine and Some of the Life Style Factors

Das¹,

Ghose²,

Borah³

et al. 2010

Indian J Clin Biochem

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Till date no community based data on plasma homocysteine is available in North Eastern Region. Hence, the present study was conducted to analyze and correlate the plasma homocysteine level with some life style factors like diet, alcohol intake, smoking habit and body weight, in a cross-section of population. 12 h fasting samples of 970 apparently healthy, Assamese population of both genders in the age group of 35-86 years, mostly from the urban area of Assam were tested for plasma total homocysteine level over a period of 3 years. Out of 970 volunteers, hyperhomocysteinemia was detected in 533 (55%) individuals with a mean value of 18.41 lmol/l. Of that hyperhomocysteinemia, 89.1% were in the range of moderately high and rest 10.9% were intermediate high. Another finding was that males had a tendency towards greater value (mean = 20.36 lmol/l) than females (mean = 16.37 lmol/l). It was observed that the relationship of homocysteine levels to gender and some of the life style factors were also significant.

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Section: Discussionsupporting

confidence: 58%

A Community Based Study of the Relationship Between Homocysteine and Some of the Life Style Factors

Das¹,

Ghose²,

Borah³

et al. 2010

Indian J Clin Biochem

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“…Hcy was assayed by reverse phase HPLC using a fluorescence detector (Shimadzu, Kyoto, Japan) (Kumar et al, 2005). Vitamin B12 and folic acid were assayed by Chemiluminescence competitive immunoassay (Immunolite 1000 Analyser, SIEMENS Diagnostic Products, Flanders, NJ, USA) as per the manufacturer's instructions.…”

Section: Metabolite and Vitamins Assaymentioning

confidence: 99%

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population

Sukla

Raman

2011

Eur J Clin Nutr

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Background/Objectives: Unlike most Western populations, MTHFR 677T is a rare allele and a risk factor for a variety of disorders in India. What kind of nutritional (environmental) and/or genetic factors could contribute to the genetic risk is not known. To assess the incidence of hyperhomocysteinemia and its correlation with the polymorphism in homocysteine (Hcy)-pathway genes and associated cofactors in the native populations of eastern India. Subjects/Methods: Healthy population from four eastern states of India. Genotyping of SNPs, HPLC and chemiluminescencebased assay for homocysteine, vitamin B12 and folic acid.Results: Approximately 30% of the population has hyperhomocysteinemia (415 mmol/lit; hypHcy) with varying frequencies in the four states from where samples were collected (n ¼ 1426). Polymorphisms of MTR and CBS do not affect hypHcy. 677T and 1298C alleles of MTHFR and G80 RFC-1 show association with hypHcy. In contrast, RFC-1 80AA is protective even in presence of 677T MTHFR. Addition of each mutant allele has an additive effect on Hcy level. Vitamin B12 (cofactor in methionine synthesis) clearly modulates the genotypic effect on Hcy level. Although frequency of individuals with low folic acid is B11, 49% of the population is vitamin B12 deficient (o220 pg/lit) and has a significant negative correlation with Hcy. Individuals with optimum vitamin B12 and folic acid generally have low Hcy, even in risk genotypes. Conclusions: One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. Apparently, supplementation of vitamin B 12 to this health-impoverished community may help lessen the risk of several multifactorial disorders.

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“…In India, a few studies on the folate and Hcy levels in general populations have revealed that the basal level of homocysteine is higher whereas that of folate is lower than the recommended WHO standards (Lakshmi et al 2001;Refsum et al 2001;Kumar et al 2005). In a largescale study on MTHFR SNPs from southern India, Radha Rama Devi et al (2004) showed that the frequency of the T allele is lower than those seen in European and American populations.…”

Section: A1298cmentioning

confidence: 99%

MTHFR C677T and A1298C polymorphisms are risk factors for Down’s syndrome in Indian mothers

Kumar

Singh

Mehta³

et al. 2006

J Hum Genet

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Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme. Three hundred and fourteen mothers (with DS children and controls), mostly from the eastern states of India, were genotyped for the two above-mentioned SNPs. Significant association with both of these SNPs were detected, more specifically, in the mothers of DS children homozygous for the polymorphic alleles 677 T and 1298 C. The relative risk of T (C677T) and C (A1298C) homozygosity in mothers for DS-affected pregnancy was 7 (OR 7.67, 95% CI 1.67-35.08, P=0.003) and 4 (OR 4.40, 95% CI 1.45-13.26, P=0.008), respectively. Moreover, all 677TT mothers studied were less than 31 years of age, whereas no correlation with maternal age was observed for A1298C genotypes. Interestingly, all of the young 677TT mothers had either a first-or secondborn child with DS. Thus, this study reports that young Indian mothers with TT genotypes are genetically predisposed to nondisjunction due to abnormal folate metabolism.

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Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population

Cited by 101 publications

References 37 publications

A Community Based Study of the Relationship Between Homocysteine and Some of the Life Style Factors

A Community Based Study of the Relationship Between Homocysteine and Some of the Life Style Factors

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population

MTHFR C677T and A1298C polymorphisms are risk factors for Down’s syndrome in Indian mothers

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