A multifactorial dimensionality reduction model for gene polymorphisms and environmental interaction...
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POSTER PRESENTATION Open Access A multifactorial dimensionality reduction model for gene polymorphisms and environmental interaction analysis for the detection of susceptibility for type 2 diabetic and cardiovascular diseases Badaruddoza * , Basanti Barna, Kawaljit Matharoo, Amarjeet Singh Bhanwer From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013 Background The present study has presented a comparative gene- environment interactions such as three genes (ENPP1- K121Q, TCF7L2-G>T and GYS1 A1>A2) and six envir- onmental factors (obesity and cardiovascular related risk factors) for the detection of susceptibility for T2DM and CVD and for the interpretation of epistasis involved in genetic studies of disease susceptibility. Materials and methods The final sample size included 250 cases and 250 con- trols to focus on better methodological quality and a higher statistical power analysis. All the interactions and approaches were carried out using the methods of MDR. Results The MDR analysis showed the interaction between environmental factor (SBP) and the genetic factor (ENPP1) for pooled and female T2DM patients which indicated that SBP and TCF7L2 had significant contri- bution on susceptibility to T2DM. The analysis showed that environmental factors (BMI, WHR, WC, SBP, DBP and PR) and genetic factors (ENPP1-K121Q, TCF7L2 -G>T and GYS1 A1>A2) have identified risk factors and their interaction. All these interactions were observed to be significant. The MDR method showed all interaction models first to ninth order interactions for pooled and male T2DM patients as significant for susceptibility of obesity. Whereas in female T2DM patients, a first order (WHR) and third order (WHR * SBP * ENPP1) have found a significant interaction for obesity. Both the genes ENPP1 and TCF7L2 interacting with WHR and WC increase the susceptibility of obesity many folds among T2DM patients and non-diabetic controls. These results were also supported by dendrogram and interac- tion entropy model. The three factor interaction model (BMI * SBP * ENPP1) for pooled T2DM patients have been found significant for predicting hypertension in T2DM patients whereas, in female T2DM patients all the interaction models have been found as significant. However, third order model (SBP * TCF7L2 * GYS1) have been found as a strong predictor for hypertension. In T2DM male patients there has been no significant interaction observed for gene-environment interaction although a seven factor model (BMI * WHR * WC * SBP * PR * ENPP1 * TCF7L2) seems to be comparatively a good predictor for hypertension. * Correspondence: [email protected] Department of Human Genetics; Guru Nanak Dev University; Amritsar- 143005, Punjab, India Badaruddoza et al. Molecular Cytogenetics 2014, 7(Suppl 1):P116 http://www.molecularcytogenetics.org/content/7/S1/P116 © 2014 Badaruddoza et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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Transcript of A multifactorial dimensionality reduction model for gene polymorphisms and environmental interaction...
POSTER PRESENTATION Open Access
A multifactorial dimensionality reduction modelfor gene polymorphisms and environmentalinteraction analysis for the detection ofsusceptibility for type 2 diabetic andcardiovascular diseasesBadaruddoza*, Basanti Barna, Kawaljit Matharoo, Amarjeet Singh Bhanwer
From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society ofHuman Genetics (ISHG)Ahmadabad, India. 23-25 January 2013
BackgroundThe present study has presented a comparative gene-environment interactions such as three genes (ENPP1-K121Q, TCF7L2-G>T and GYS1 A1>A2) and six envir-onmental factors (obesity and cardiovascular related riskfactors) for the detection of susceptibility for T2DM andCVD and for the interpretation of epistasis involved ingenetic studies of disease susceptibility.
Materials and methodsThe final sample size included 250 cases and 250 con-trols to focus on better methodological quality and ahigher statistical power analysis. All the interactionsand approaches were carried out using the methodsof MDR.
ResultsThe MDR analysis showed the interaction betweenenvironmental factor (SBP) and the genetic factor(ENPP1) for pooled and female T2DM patients whichindicated that SBP and TCF7L2 had significant contri-bution on susceptibility to T2DM. The analysis showedthat environmental factors (BMI, WHR, WC, SBP, DBPand PR) and genetic factors (ENPP1-K121Q, TCF7L2
-G>T and GYS1 A1>A2) have identified risk factors andtheir interaction. All these interactions were observed tobe significant. The MDR method showed all interactionmodels first to ninth order interactions for pooled andmale T2DM patients as significant for susceptibility ofobesity. Whereas in female T2DM patients, a first order(WHR) and third order (WHR * SBP * ENPP1) havefound a significant interaction for obesity. Both thegenes ENPP1 and TCF7L2 interacting with WHR andWC increase the susceptibility of obesity many foldsamong T2DM patients and non-diabetic controls. Theseresults were also supported by dendrogram and interac-tion entropy model. The three factor interaction model(BMI * SBP * ENPP1) for pooled T2DM patients havebeen found significant for predicting hypertension inT2DM patients whereas, in female T2DM patients allthe interaction models have been found as significant.However, third order model (SBP * TCF7L2 * GYS1)have been found as a strong predictor for hypertension.In T2DM male patients there has been no significantinteraction observed for gene-environment interactionalthough a seven factor model (BMI * WHR * WC * SBP *PR * ENPP1 * TCF7L2) seems to be comparatively a goodpredictor for hypertension.
* Correspondence: [email protected] of Human Genetics; Guru Nanak Dev University; Amritsar-143005, Punjab, India
Badaruddoza et al. Molecular Cytogenetics 2014, 7(Suppl 1):P116http://www.molecularcytogenetics.org/content/7/S1/P116
© 2014 Badaruddoza et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
ConclusionsThe results showed that both the genes ENPP1 andTCF7L2 interacting with WHR and WC increase thesusceptibility of obesity many folds among T2DMpatients and non-diabetic controls.
Published: 21 January 2014
doi:10.1186/1755-8166-7-S1-P116Cite this article as: Badaruddoza et al.: A multifactorial dimensionalityreduction model for gene polymorphisms and environmentalinteraction analysis for the detection of susceptibility for type 2diabetic and cardiovascular diseases. Molecular Cytogenetics 20147(Suppl 1):P116.
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Badaruddoza et al. Molecular Cytogenetics 2014, 7(Suppl 1):P116http://www.molecularcytogenetics.org/content/7/S1/P116
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