{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T20:24:45Z","timestamp":1768249485704,"version":"3.49.0"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background\u2014<\/jats:italic>\n            <\/jats:bold>\n            An elevated level of homocysteine (hyperhomocysteinemia) has been implicated as an independent risk factor for cardiovascular diseases. Deficiency of dietary factors like vitamin B\n            <jats:sub>12<\/jats:sub>\n            , 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\n            <jats:sub>12<\/jats:sub>\n            . In the background of vitamin B\n            <jats:sub>12<\/jats:sub>\n            deficiency, variations in genes involved in homocysteine metabolism might have a greater impact on homocysteine levels.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods and Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            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 individuals recruited from a tertiary care center in New Delhi, India, and it was found that choline dehydrogenase (\n            <jats:italic>CHDH<\/jats:italic>\n            A119C) and methylenetetrahydrofolate reductase (\n            <jats:italic>MTHFR<\/jats:italic>\n            C677T) were significantly associated with plasma total homocysteine levels (\n            <jats:italic>P<\/jats:italic>\n            =0.009 and\n            <jats:italic>P<\/jats:italic>\n            =0.001, respectively). These 2 SNPs were further genotyped in 330 individuals recruited from the same center, and the association remained significant even after increasing the sample 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 individuals 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.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusion\u2014<\/jats:italic>\n            <\/jats:bold>\n            Vegetarian diet along with\n            <jats:italic>CHDH<\/jats:italic>\n            A119C and\n            <jats:italic>MTHFR<\/jats:italic>\n            C677T play an important role in modulating the homocysteine levels in Indian population.\n          <\/jats:p>","DOI":"10.1161\/circgenetics.108.841411","type":"journal-article","created":{"date-parts":[[2009,9,6]],"date-time":"2009-09-06T00:24:23Z","timestamp":1252196663000},"page":"599-606","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":34,"title":["Single Nucleotide Polymorphisms in Homocysteine Metabolism Pathway Genes"],"prefix":"10.1161","volume":"2","author":[{"given":"Jitender","family":"Kumar","sequence":"first","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaurav","family":"Garg","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun","family":"Kumar","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elayanambi","family":"Sundaramoorthy","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krishna Rao","family":"Sanapala","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saurabh","family":"Ghosh","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganesan","family":"Karthikeyan","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmy","family":"Ramakrishnan","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. Road, Kolkata, India; and All India Institute of Medical Sciences (G.K., L.R.), New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Indian Genome Variation Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shantanu","family":"Sengupta","sequence":"additional","affiliation":[{"name":"From the Institute of Genomics and Integrative Biology (J.K., G.G., A.K., E.S., S.S.), Delhi, India; Indian Statistical Institute (K.R.S., S.G.), B.T. 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