title: Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population.
abstract: OBJECTIVE
  To replicate the association of newly identified variants of TMEM163 (transmembrane protein 163) and COBLL1 (cordon-bleu protein-like 1) with type 2 diabetes (T2D) in Northwest Indian population.
  
  
  METHODS
  We performed a replication study of variants rs998451 and rs6723108 of gene TMEM163 and rs7607980 of gene COBLL1. The variations were genotyped using Taqman allele discrimination assay in 1209 Northwest Indians (651 T2D cases and 558 controls). The association of each SNP with the disease was evaluated using logistic regression.
  
  
  RESULTS
  All the three SNPs examined in this study did not show any significant association with T2D. For rs998451 and rs6723108 of TMEM163 the observed odds ratios were 0.71 with a 95% CI of 0.28-1.84 (p=0.484) and 1.80 with a 95% CI of 0.74-4.40 (p=0.196), respectively. For rs7607980 the estimated odds ratio was 1.01 with 95% CI of 0.70-1.44 (p=0.946).
  
  
  CONCLUSIONS
  We conclude that lack of association could be because of population structure of Indian Population that is conglomeration of various ethnic groups. For a conclusive association study of T2D in India, it is critical that such studies are carried out among endogamous ethnic groups rather than conventional practice of pooling samples based on Geographical/regional or linguist affiliations like Asian Indian, North or South Indian etc.
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Sharma
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India.
authors.forename: Indu
authors.initials: I
authors.lastname: Sharma
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India.
authors.forename: Itty
authors.initials: I
authors.lastname: Sethi
authors.affiliation: Department of Biotechnology, University of Jammu, 180006, India.
authors.forename: Ankit
authors.initials: A
authors.lastname: Mahajan
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.
authors.forename: Gurvinder
authors.initials: G
authors.lastname: Singh
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India.
authors.forename: Arshia
authors.initials: A
authors.lastname: Angural
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.
authors.forename: A J S
authors.initials: AJS
authors.lastname: Bhanwer
authors.affiliation: Department of Biotechnology, University of Jammu, 180006, India.
authors.forename: Manoj K
authors.initials: MK
authors.lastname: Dhar
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Singh
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India. Electronic address: ekta.rai@smvdu.ac.in.
authors.forename: Ekta
authors.initials: E
authors.lastname: Rai
authors.affiliation: Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, 182320, India. Electronic address: Swarkar.sharma@smvdu.ac.in.
authors.forename: Swarkar
authors.initials: S
authors.lastname: Sharma
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007194:India; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C584084:COBLL1 protein, human; D008565:Membrane Proteins; C579751:TMEM163 protein, human; D014157:Transcription Factors
keywords: COBLL1 (cordon-bleu protein-like 1); GWAS (Genome-Wide Association Studies); TMEM163 (transmembrane protein 163)