Experts and Doctors on single nucleotide polymorphism in India


Locale: India
Topic: single nucleotide polymorphism

Top Publications

  1. Ramchander P, Panda K, Panda A. Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. Genet Test Mol Biomarkers. 2010;14:539-41 pubmed publisher
    ..569T>A (p. Ile190Asn), which most likely represents a rare polymorphism. From the study, we conclude that mutations in the Cx29 gene do not play a role in the causation of NSHI in Indian population. ..
  2. Maitra A, Shanker J, Dash D, John S, Sannappa P, Rao V, et al. Polymorphisms in the IL6 gene in Asian Indian families with premature coronary artery disease--the Indian Atherosclerosis Research Study. Thromb Haemost. 2008;99:944-50 pubmed publisher
    ..001). In conclusion, IL6 gene polymorphisms appear to be important genetic factors in premature CAD, and in the regulation of key atherogenic markers in Asian Indian families. ..
  3. Agrawal S, Dimitrova N, Nathan P, Udayakumar K, Lakshmi S, Sriram S, et al. T2D-Db: an integrated platform to study the molecular basis of Type 2 diabetes. BMC Genomics. 2008;9:320 pubmed publisher
    ..These features aid to the data interpretation in an integrative way. T2D-Db is to our knowledge the first publicly available resource that can cater to the needs of researchers working on different aspects of type 2 diabetes mellitus. ..
  4. Kordi Tamandani D, Sobti R, Shekari M. Association of Fas-670 gene polymorphism with risk of cervical cancer in North Indian population. Clin Exp Obstet Gynecol. 2008;35:183-6 pubmed
    ..001 - OR = 4.9, 95% CI = 2.20-10.32, p < 0.001), respectively. This is the first study to provide evidence for the association of a Fas -670 (A/G) gene polymorphism with the risk of cervical cancer in a North Indian population. ..
  5. Tanjore R, Rangaraju A, Kerkar P, Calambur N, Nallari P. MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol. 2008;24:127-30 pubmed
    ..Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle. One hundred forty-seven mutations have been detected in MYBPC3, accounting for 15% of all HCM cases...
  6. Kolla V, Madhavi G, Pulla Reddy B, Srikanth Babu B, Yashovanthi J, Valluri V, et al. Association of tumor necrosis factor alpha, interferon gamma and interleukin 10 gene polymorphisms with peripheral neuropathy in South Indian patients with type 2 diabetes. Cytokine. 2009;47:173-7 pubmed publisher
    ..The study shows that the 'high-producer' IL-10 -1082 G/G genotype and the 'low-producer' IFNgamma +874 A/A genotype may be responsible for the down regulation of immune response leading to inflammation in this setting. ..
  7. Shaik A, Jamil K. Individual susceptibility and genotoxicity in workers exposed to hazardous materials like lead. J Hazard Mater. 2009;168:918-24 pubmed publisher
    ..Further studies on the role of gene polymorphisms over a larger population along with genotoxicity parameters and biochemical analyses may serve to understand lead toxicity. ..
  8. Shanker J, Perumal G, Rao V, Khadrinarasimhiah N, John S, Hebbagodi S, et al. Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease. Lipids Health Dis. 2008;7:33 pubmed publisher
    ..The APOC3-Sac1 SNP is an important genetic variant that is associated with CAD through its interaction with plasma lipids and other standard risk factors among Asian Indians. ..
  9. Kordi Tamandani M, Sobti R, Shekari M, Mukesh M, Suri V. Expression and polimorphism of IFN-gamma gene in patients with cervical cancer. Exp Oncol. 2008;30:224-9 pubmed
    ..This is the first study to provide an evidence for effecting of IFN-gamma gene on the risk of cervical cancer in north Indian population. ..

More Information


  1. Singh V, Tiwari R, Dikshit M, Barthwal M. Models to study atherosclerosis: a mechanistic insight. Curr Vasc Pharmacol. 2009;7:75-109 pubmed
  2. Dhangadamajhi G, Mohapatra B, Kar S, Ranjit M. Genetic variation in neuronal nitric oxide synthase (nNOS) gene and susceptibility to cerebral malaria in Indian adults. Infect Genet Evol. 2009;9:908-11 pubmed publisher
    ..89, 95%CI=1.08-3.32, P=0.0334). The -84A seems to be a putative risk allele on the susceptibility to cerebral malaria and low nitric oxide production might have contributed to the development of cerebral malaria. ..
  3. Gowda S, Kumaran M, Suma B, Rao M. Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population. Hum Biol. 2007;79:545-62 pubmed
    ..One of the alleles found at position 1458 of the XPA gene showed a significant change in protein-DNA interaction. In the XPG gene we found five polymorphisms in the coding region and one each in the 5' UTR of exon 1 and in intron 13. ..
  4. Dhangadamajhi G, Mohapatra B, Kar S, Ranjit M. Gene polymorphisms in angiotensin I converting enzyme (ACE I/D) and angiotensin II converting enzyme (ACE2 C-->T) protect against cerebral malaria in Indian adults. Infect Genet Evol. 2010;10:337-41 pubmed publisher
    ..These genetic findings may contribute to the understanding of malaria pathogenesis...
  5. Raju N, Gnanesh B, Lekha P, Jayashree B, Pande S, Hiremath P, et al. The first set of EST resource for gene discovery and marker development in pigeonpea (Cajanus cajan L.). BMC Plant Biol. 2010;10:45 pubmed publisher
    ..With an objective of enhancing genomic resources in pigeonpea, this study reports generation and analysis of comprehensive resource of FW- and SMD- responsive expressed sequence tags (ESTs)...
  6. Sameer A, Shah Z, Syeed N, Banday M, Bashir S, Bhat B, et al. TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population. Genet Mol Res. 2010;9:651-60 pubmed publisher
    ..We conclude that Arg72Pro SNP is associated with susceptibility to developing CRC in this ethnic Kashmiri population. ..
  7. Sameer A, Shah Z, Syeed N, Rasool R, Afroze D, Siddiqi M. NAD(P)H:quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and colorectal cancer predisposition in the ethnic Kashmiri population. Asian Pac J Cancer Prev. 2010;11:209-13 pubmed
    ..Therefore, we suggest that the NQO1 C609T SNP is involved either in susceptibility or development of CRC in the ethnic Kashmiri population. ..
  8. Kumar A, Basavaraj M, Gupta S, Qamar I, Ali A, Bajaj V, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007;13:667-76 pubmed
    ..This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients. Our study shows that mutations in these genes are rare in Indian POAG patients. ..
  9. Priyadarshi S, Panda K, Panda A, Ramchander P. Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India. Genet Mol Res. 2010;9:1914-20 pubmed publisher
    ..7371), and rs10227303 (P = 0.5669) were not significantly associated with this disease. In one familial case, a novel variant (C/T) at contig position 2923488 was found to be inherited by the proband and affected family members...
  10. Adak S, Sengupta S, Chowdhury S, Bhattacharyya M. Co-existence of risk and protective haplotypes of Calpain 10 gene to type 2 diabetes in the eastern Indian population. Diab Vasc Dis Res. 2010;7:63-8 pubmed publisher
    ..In our population a novel 111/112-haplotype combination created by the CAPN10 UCSNP-43, -19 and -63 was associated with risk of T2DM. Haplotypes 112 and 121 with opposite genetic influences also co-exist in our population. ..