title: The influence of ethnicity in the association of WC, WHR, hypertension and PGC-1α (Gly482Ser), UCP2 -866 G/A and SIRT1 -1400 T/C polymorphisms with T2D in the population of Punjab.
abstract: OBJECTIVE
  To assess the effect of ethnicity, the association of WC, WHR and hypertension along with PGC-1α (Gly482Ser), UCP2 -866 G/A and SIRT1 -1400 T/C polymorphisms in seven endogamous caste groups and pooled population of Punjab.
  
  
  METHODS
  Study was conducted on 1813 individuals (859 T2D patients and 954 healthy controls) belonging to seven endogamous groups. Waist and hip circumference, height, weight and blood pressure were recorded following standard protocol using designed performa. PGC-1α (Gly482Ser) and UCP2 -866 G/A polymorphisms were genotyped using PCR RFLP and SIRT1 -1400 T/C was genotyped by direct DNA sequencing.
  
  
  RESULTS
  WHR conferred risk in Brahmins (p=0.00003), Khtaris (p=0.001) and SCs (p=0.02). Similarly, we detected that WC conferred risk in BCs (p=0.012), Brahmins (p=0.016), Jat Sikhs (0.00025), Khatris (0.005) and SCs (p=0.015). In pooled population, all three factors imparted risk (WHR (p=0.00001), hypertension (p=0.003) and WC (p=0.0000016)). With respect to gene polymorphism, PGC-1α (Gly482Ser) was associated in Banias (p=0.0003), Jat Sikhs (p=0.003) and Khatris (p=0.03). Similarly, UCP2 -866 G>A showed risk in Banias (p=0.000004), BCs (p=0.01) and SCs (p=0.01). However, SIRT1 -1400 T>C showed risk only in Khatris (p=0.004). In the pooled population of Punjab, both PGC-1α (Gly482Ser) [p=0.001] and UCP2 -866 G>A (p=0.0001) polymorphisms provided risk. Interaction analysis showed 72% of the patients had risk combination of PGC-1α XA and UCP2-866 XA genotypes.
  
  
  CONCLUSIONS
  Based on the data, Khatris were found to be showing the highest susceptibility to T2D followed by SCs. Different combinations of factors provided risk in each caste group and in pooled population. Therefore, to curve the menace of T2D, detailed information about the ethnic background of the individual will be very useful for proper medical intervention.
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India. Electronic address: nk.geneticist@gmail.com.
authors.forename: Nabodita
authors.initials: N
authors.lastname: Kaul
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India. Electronic address: yoginderbiotec@gmail.com.
authors.forename: Yoginder P
authors.initials: YP
authors.lastname: Singh
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India. Electronic address: ajsbhanwer@gmail.com.
authors.forename: A J S
authors.initials: AJ
authors.lastname: Bhanwer
mesh_terms: D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics*; D007194:India; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D056564:Sirtuin 1 / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000071246:Uncoupling Protein 2; D055105:Waist Circumference; D049629:Waist-Hip Ratio / Q000379:methods
chemical_list: D007473:Ion Channels; D024101:Mitochondrial Proteins; C486497:PPARGC1A protein, human; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D014157:Transcription Factors; C000604389:UCP2 protein, human; D000071246:Uncoupling Protein 2; C447939:SIRT1 protein, human; D056564:Sirtuin 1
keywords: PGC-1α; SIRT1; Type 2 diabetes; UCP2; WC; WHR