Show simple item record

dc.contributor.authorBeen, L.F.
dc.contributor.authorRalhan, S.
dc.contributor.authorWander, G.S.
dc.contributor.authorMehra, N.K.
dc.contributor.authorSingh, J.
dc.contributor.authorMulvihill, J.J.
dc.contributor.authorAston, C.E.
dc.contributor.authorSanghera, D.K.
dc.date.accessioned2018-07-14T01:19:19Z
dc.date.available2018-07-14T01:19:19Z
dc.date.issued2011
dc.identifier.citationBeen, L. F., Ralhan, S., Wander, G. S., Mehra, N. K., Singh, J., Mulvihill, J. J., . . . Sanghera, D. K. (2011). Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US. BMC Medical Genetics, 12. doi: 10.1186/1471-2350-12-18en_US
dc.identifier.issn14712350
dc.identifier.urihttp://kr.cup.edu.in/handle/32116/1508
dc.description.abstractBackground: Polymorphisms in intron 15 of potassium voltage-gated channel, KQT-like subfamily member 1 (KCNQ1) gene have been associated with type II diabetes (T2D) in Japanese genome-wide association studies (GWAS). More recently a meta-analysis of European GWAS has detected a new independent signal associated with T2D in intron 11 of the KCNQ1 gene. The purpose of this investigation is to examine the role of these variants with T2D in populations of Asian Indian descent from India and the US.Methods: We examined the association between four variants in the KCNQ1 gene with T2D and related quantitative traits in a total of 3,310 Asian Indian participants from two different cohorts comprising 2,431 individuals of the Punjabi case-control cohort from the Sikh Diabetes Study and 879 migrant Asian Indians living in the US.Results: Our data confirmed the association of a new signal at the KCNQ1 locus (rs231362) with T2D showing an allelic odds ratio (OR) of 1.24 95%CI [1.08-1.43], p = 0.002 in the Punjabi cohort. A moderate association with T2D was also seen for rs2237895 in the Punjabi (OR 1.14; p = 0.036) and combined cohorts (meta-analysis OR 1.14; p = 0.018). Three-site haplotype analysis of rs231362, rs2237892, rs2237895 exhibited considerably stronger evidence of association of the GCC haplotype with T2D showing OR of 1.24 95%CI [1.00-1.53], p = 0.001, permutation p = 8 ? 10-4in combined cohorts. The 'C' risk allele carriers of rs2237895 had significantly reduced measures of HOMA-B in the US cohort (p = 0.008) as well as in combined cohort in meta-analysis (p = 0.009).Conclusions: Our investigation has confirmed that the variation within the KCNQ1 locus confers a significant risk to T2D among Asian Indians. Haplotype analysis further suggested that the T2D risk associated with KCNQ1 SNPs may be derived from 'G' allele of rs231362 and 'C' allele of rs2237895 and this appears to be mediated through ? cell function. ? 2011 Been et al; licensee BioMed Central Ltd.en_US
dc.language.isoenen_US
dc.subjectCysteine Derivativeen_US
dc.subjectGlycylcysteinylcysteineen_US
dc.subjectPotassium Channel Kcnq1en_US
dc.subjectUnclassified Drugen_US
dc.subjectKcnq1 Protein, Humanen_US
dc.subjectPotassium Channel Kcnq1en_US
dc.subjectAdulten_US
dc.subjectAgeden_US
dc.subjectCase Control Studyen_US
dc.subjectClinical Assessment Toolen_US
dc.subjectCohort Analysisen_US
dc.subjectControlled Studyen_US
dc.subjectFemaleen_US
dc.subjectGene Frequencyen_US
dc.subjectGene Mutationen_US
dc.subjectGenetic Associationen_US
dc.subjectGenetic Susceptibilityen_US
dc.subjectGenetic Variabilityen_US
dc.subjectHaplotypeen_US
dc.subjectHeterozygoteen_US
dc.subjectHomeostasis Model Assessment For Beta Cell Functionen_US
dc.subjectHumanen_US
dc.subjectIndiaen_US
dc.subjectIndianen_US
dc.subjectMajor Clinical Studyen_US
dc.subjectMaleen_US
dc.subjectMeta Analysisen_US
dc.subjectMigrationen_US
dc.subjectMen_US
dc.titleVariants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the USen_US
dc.typeArticleen_US
dc.identifier.doi10.1186/1471-2350-12-18
dc.identifier.urlhttps://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-12-18
dc.title.journalBMC Medical Genetics


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record