New aQTL SNPs for the CYP2D6 Identified by a Novel Mediation Analysis of Genome-Wide SNP Arrays, Gene Expression Arrays, and CYP2D6 Activity

المؤلفون المشاركون

Liu, Yunlong
Jiang, Guanglong
Chakraborty, Arindom
Wang, Zhiping
Boustani, Malaz
Li, Lang
Skaar, Todd C.

المصدر

BioMed Research International

العدد

المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-7، 7ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2013-10-22

دولة النشر

مصر

عدد الصفحات

7

التخصصات الرئيسية

الطب البشري

الملخص EN

Background.

The genome-wide association studies (GWAS) have been successful during the last few years.

A key challenge is that the interpretation of the results is not straightforward, especially for transacting SNPs.

Integration of transcriptome data into GWAS may provide clues elucidating the mechanisms by which a genetic variant leads to a disease.

Methods.

Here, we developed a novel mediation analysis approach to identify new expression quantitative trait loci (eQTL) driving CYP2D6 activity by combining genotype, gene expression, and enzyme activity data.

Results.

389,573 and 1,214,416 SNP-transcript-CYP2D6 activity trios are found strongly associated (P<10-5, FDR=16.6% and 11.7%) for two different genotype platforms, namely, Affymetrix and Illumina, respectively.

The majority of eQTLs are trans-SNPs.

A single polymorphism leads to widespread downstream changes in the expression of distant genes by affecting major regulators or transcription factors (TFs), which would be visible as an eQTL hotspot and can lead to large and consistent biological effects.

Overlapped eQTL hotspots with the mediators lead to the discovery of 64 TFs.

Conclusions.

Our mediation analysis is a powerful approach in identifying the trans-QTL-phenotype associations.

It improves our understanding of the functional genetic variations for the liver metabolism mechanisms.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Jiang, Guanglong& Chakraborty, Arindom& Wang, Zhiping& Boustani, Malaz& Liu, Yunlong& Skaar, Todd C.…[et al.]. 2013. New aQTL SNPs for the CYP2D6 Identified by a Novel Mediation Analysis of Genome-Wide SNP Arrays, Gene Expression Arrays, and CYP2D6 Activity. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030595

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Jiang, Guanglong…[et al.]. New aQTL SNPs for the CYP2D6 Identified by a Novel Mediation Analysis of Genome-Wide SNP Arrays, Gene Expression Arrays, and CYP2D6 Activity. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1030595

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Jiang, Guanglong& Chakraborty, Arindom& Wang, Zhiping& Boustani, Malaz& Liu, Yunlong& Skaar, Todd C.…[et al.]. New aQTL SNPs for the CYP2D6 Identified by a Novel Mediation Analysis of Genome-Wide SNP Arrays, Gene Expression Arrays, and CYP2D6 Activity. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030595

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1030595