ORCID Profile
0000-0002-4917-8892
Current Organisation
Amity University
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-2009
DOI: 10.1161/CIRCGENETICS.108.841411
Abstract: Background— An elevated level of homocysteine (hyperhomocysteinemia) has been implicated as an independent risk factor for cardiovascular diseases. Deficiency of dietary factors like vitamin B 12 , folate, and genetic variations can cause hyperhomocysteinemia. The prevalence of hyperhomocysteinemia in the Indian population is likely to be high because most Indians adhere to a vegetarian diet, deficient in vitamin B 12 . In the background of vitamin B 12 deficiency, variations in genes involved in homocysteine metabolism might have a greater impact on homocysteine levels. Methods and Results— We genotyped 44 nonsynonymous single-nucleotide polymorphisms (nsSNPs) from 11 genes involved in homocysteine metabolism and found only 14 to be polymorphic. These 14 nsSNPs were genotyped in 546 in iduals recruited from a tertiary care center in New Delhi, India, and it was found that choline dehydrogenase ( CHDH A119C) and methylenetetrahydrofolate reductase ( MTHFR C677T) were significantly associated with plasma total homocysteine levels ( P =0.009 and P =0.001, respectively). These 2 SNPs were further genotyped in 330 in iduals recruited from the same center, and the association remained significant even after increasing the s le size. Furthermore, we found the possibility of a significant interaction between vegetarian diet and the 2 polymorphisms that could explain the variation of homocysteine levels. We also genotyped all the polymorphic nsSNPs in apparently healthy in iduals recruited from 24 different subpopulations (based on their linguistic lineage) spread across the country to determine their basal frequencies. The frequencies of these SNPs varied significantly between linguistic groups. Conclusion— Vegetarian diet along with CHDH A119C and MTHFR C677T play an important role in modulating the homocysteine levels in Indian population.
Publisher: Springer Science and Business Media LLC
Date: 02-08-2017
DOI: 10.1038/NCOMMS16140
Abstract: Nature Communications 8: Article number: 15805 (2017) Published: 14 June 2017 Updated: 2 August 2017 In Supplementary Fig. 10 of this Article, images for panels a and b were inadvertently omitted. The correct version of Supplementary Fig. 10 is provided as Supplementary Information associated withthis Erratum.
Publisher: Springer Science and Business Media LLC
Date: 14-06-2017
DOI: 10.1038/NCOMMS15805
Abstract: Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 in iduals of European ancestry, we detect 17 genome-wide significant SNPs in eight loci. HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755 ), expression quantitative trait loci (eQTLs) (influencing GNG11 , RGS6 and NEO1 ), or are located in genes preferentially expressed in the sinoatrial node ( GNG11 , RGS6 and HCN4) . Genetic risk scores account for 0.9 to 2.6% of the HRV variance. Significant genetic correlation is found for HRV with heart rate (−0.74 r g −0.55) and blood pressure (−0.35 r g −0.20). These findings provide clinically relevant biological insight into heritable variation in vagal heart rhythm regulation, with a key role for genetic variants ( GNG11 , RGS6) that influence G-protein heterotrimer action in GIRK-channel induced pacemaker membrane hyperpolarization.
No related grants have been discovered for Jitender Kumar.