PMID- 17701054
OWN - NLM
STAT- MEDLINE
DCOM- 20080416
LR  - 20181113
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Linking)
VI  - 122
IP  - 5
DP  - 2007 Dec
TI  - Interaction between the UCP2-866G/A, mtDNA 10398G/A and PGC1alpha p.Thr394Thr and 
      p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian 
      population.
PG  - 535-40
AB  - In the recent past, we have observed a possible role of 10398A and 16189C mtDNA 
      and PGC1alpha p.Thr394Thr (rs2970847) and p.Gly482Ser (rs8192673) variant 
      genotypes providing susceptibility/protection against type 2 diabetes mellitus 
      (T2DM) in two North Indian population groups. These initial observations 
      encouraged us to look at the candidate genes in combination with -866G/A 
      (rs659366) polymorphism in uncoupling protein 2 (UCP2) in a single study of a 
      relatively large sample size, constituted of both the cohorts, to unravel an 
      interesting outcome of an additive interaction in-between the studied genes. In a 
      total of 1,686 individuals (762 cases and 924 controls) belonging to 
      Indo-European linguistic group from North India, a comparison of risk genotype 
      combinations of: UCP2-866GG, mtDNA 10398A and PGC1alpha p.Thr394Thr or 
      p.Gly482Ser against the protective genotypes: UCP2-866XA, mtDNA 10398G and 
      PGC1alpha p.Thr394Thr (nominal P value = 1.75 x 10(-14), Odds ratio, OR = 5.29, 
      3.40-8.22 at 95% CI) or PGC1alpha p.Gly482Ser (nominal p value = 4.42 x 10(-24), 
      OR = 8.59, 5.53-13.35 at 95% CI), showed a highly significant difference and 
      increased ORs. In a complex disease, it is always encouraging to find an additive 
      interaction of multiple small effects of the studied candidate gene variations.
FAU - Rai, E
AU  - Rai E
AD  - National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal 
      Nehru University, New Delhi, 110067, India.
FAU - Sharma, S
AU  - Sharma S
FAU - Koul, A
AU  - Koul A
FAU - Bhat, A K
AU  - Bhat AK
FAU - Bhanwer, A J S
AU  - Bhanwer AJ
FAU - Bamezai, R N K
AU  - Bamezai RN
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070814
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (Heat-Shock Proteins)
RN  - 0 (Ion Channels)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (PPARGC1A protein, human)
RN  - 0 (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha)
RN  - 0 (Transcription Factors)
RN  - 0 (UCP2 protein, human)
RN  - 0 (Uncoupling Protein 2)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Case-Control Studies
MH  - DNA, Mitochondrial/*genetics
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Heat-Shock Proteins/*genetics
MH  - Humans
MH  - India
MH  - Ion Channels/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mitochondrial Proteins/*genetics
MH  - Odds Ratio
MH  - Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single Nucleotide
MH  - Transcription Factors/*genetics
MH  - Uncoupling Protein 2
EDAT- 2007/08/19 09:00
MHDA- 2008/04/17 09:00
CRDT- 2007/08/19 09:00
PHST- 2007/06/27 00:00 [received]
PHST- 2007/08/07 00:00 [accepted]
PHST- 2007/08/19 09:00 [pubmed]
PHST- 2008/04/17 09:00 [medline]
PHST- 2007/08/19 09:00 [entrez]
AID - 10.1007/s00439-007-0421-4 [doi]
PST - ppublish
SO  - Hum Genet. 2007 Dec;122(5):535-40. doi: 10.1007/s00439-007-0421-4. Epub 2007 Aug 
      14.