title: Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians.
abstract: OBJECTIVE
  To examine the effect of genetic variation in KCNJ11 on the risk of Type 2 diabetes mellitus in Trinidadians.
  
  
  METHODS
  The coding and bordering intron-exon regions of the KCNJ11 gene were sequenced in 168 diabetic and 61 non-diabetic subjects who historically were thought to be of South Asian Indian ancestry as well as 66 diabetic and 59 non-diabetic subjects of African ancestry. Allele and haplotype frequency differences were calculated between cases and controls and linkage equilibrium was assessed across the KCNJ11 region.
  
  
  RESULTS
  We identified novel missense mutations in both subject groups including A94P and R369C in a diabetic Indo-Trinidadian subject, S113G in a non-diabetic Indo-Trinidadian subject, and S118L in a diabetic Afro-Trinidadian subject. It is unknown if these mutations are pathogenic as other family members were not available for study. Additionally, the common variant E23K was associated with Type 2 diabetes in the Indo-Trinidadian group (OR = 1.797 [1.148-2.814], p = 0.0098).
  
  
  CONCLUSIONS
  Rare variants in KCNJ11 are segregating in the Indo- and Afro-Trinidadian populations and further studies are needed to determine their contribution, if any, to the overall prevalence of diabetes in these groups. Common variants such as E23K may increase the risk in the Indo-Trinidadian population.
authors.affiliation: Department of Life Sciences, Faculty of Science and Agriculture, The University of the West Indies, Trinidad and Tobago. lboodram@hotmail.com
authors.forename: L G
authors.initials: LG
authors.lastname: Boodram
authors.forename: K
authors.initials: K
authors.lastname: Miyake
authors.forename: M G
authors.initials: MG
authors.lastname: Hayes
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: B N
authors.initials: BN
authors.lastname: Cockburn
mesh_terms: D000328:Adult; D000483:Alleles; D016009:Chi-Square Distribution; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D014300:Trinidad and Tobago / Q000453:epidemiology; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel