PMID- 27377502
OWN - NLM
STAT- MEDLINE
DCOM- 20170529
LR  - 20191210
IS  - 0971-5916 (Print)
IS  - 0971-5916 (Linking)
VI  - 143
IP  - 4
DP  - 2016 Apr
TI  - Association of CDKAL1, CDKN2A/B & HHEX gene polymorphisms with type 2 diabetes 
      mellitus in the population of Hyderabad, India.
PG  - 455-63
LID - 10.4103/0971-5916.184303 [doi]
AB  - BACKGROUND & OBJECTIVES: The genome-wide association studies (GWAS) have shown an 
      association of type 2 diabetes mellitus (T2DM) with several novel genes. We 
      report here the findings on the pattern of genetic association of three genes 
      (CDKAL1, CDKN2A/B and HHEX) with T2DM in the population of Hyderabad, south 
      India. METHODS: A sample of 1379 individuals (758 T2DM cases and 621 controls) 
      from Hyderabad, India, were genotyped for five single nucleotide polymorphisms 
      (SNPs) of CDKAL1 (rs7754840, rs7756992) CDKN2A/B (rs10811661) and HHEX 
      (rs1111875, rs7923837) genes on Sequenom Mass Array platform. RESULTS: The risk 
      allele frequencies of the CDKAL1 and CDKN2A/B SNPs were relatively higher in 
      cases than in the controls and the logistic regression analysis yielded 
      significant odds ratios suggesting that the variant alleles conferred risk for 
      developing T2DM in this population. the HHEX gene did not show either allelic or 
      genotypic association with T2DM. The multivariate logistic regression analysis 
      with reference to both alleles and genotypes of CDKAL1 SNPs showed significant 
      association, suggesting an important role for this gene in the T2DM 
      pathophysiology. INTERPRETATION & CONCLUSIONS: A significant association was seen 
      of all the three SNPs of CDKAL1 and CDKN2A/B genes with T2DM but none of the two 
      SNPs of HHEX. Further studies are required to cross-validate our findings in a 
      relatively larger sample. It is also necessary to explore other SNPs of HHEX gene 
      to unequivocally establish the pattern of association of this gene with T2DM in 
      this population.
FAU - Kommoju, Uma Jyothi
AU  - Kommoju UJ
AD  - Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical 
      Institute, Hyderabad, India.
FAU - Samy, Subburaj Kadarkarai
AU  - Samy SK
AD  - Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical 
      Institute, Hyderabad, India.
FAU - Maruda, Jayaraj
AU  - Maruda J
AD  - Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical 
      Institute, Hyderabad, India.
FAU - Irgam, Kumuda
AU  - Irgam K
AD  - Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical 
      Institute, Hyderabad, India.
FAU - Kotla, Jaya Prasad
AU  - Kotla JP
AD  - JP Endocrine Center, Hyderabad, India.
FAU - Velaga, Lakshmi
AU  - Velaga L
AD  - Department of Human Genetics, Andhra University, Visakhapatnam, India.
FAU - Reddy, Battini Mohan
AU  - Reddy BM
AD  - Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical 
      Institute, Hyderabad, India.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Indian J Med Res
JT  - The Indian journal of medical research
JID - 0374701
RN  - 0 (CDKN2A protein, human)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p16)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p18)
RN  - 0 (HHEX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 2.1.1.- (tRNA Methyltransferases)
RN  - EC 2.8.4.5 (CDKAL1 protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Cyclin-Dependent Kinase Inhibitor p16
MH  - Cyclin-Dependent Kinase Inhibitor p18/*genetics
MH  - Diabetes Mellitus, Type 2/*genetics/pathology
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - India
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Transcription Factors/*genetics
MH  - tRNA Methyltransferases/*genetics
PMC - PMC4928552
COIS- Conflicts of Interest: None.
EDAT- 2016/07/06 06:00
MHDA- 2017/05/30 06:00
PMCR- 2016/04/01
CRDT- 2016/07/06 06:00
PHST- 2016/07/06 06:00 [entrez]
PHST- 2016/07/06 06:00 [pubmed]
PHST- 2017/05/30 06:00 [medline]
PHST- 2016/04/01 00:00 [pmc-release]
AID - IndianJMedRes_2016_143_4_455_184303 [pii]
AID - IJMR-143-455 [pii]
AID - 10.4103/0971-5916.184303 [doi]
PST - ppublish
SO  - Indian J Med Res. 2016 Apr;143(4):455-63. doi: 10.4103/0971-5916.184303.