Resequencing CYP2D6 Gene in Indian Population: CYP2D6*41 Identified as the Major Reduced Function Allele

Abstract

Aim: The CYP2D6 gene is highly polymorphic and harbors population specific alleles that define its predominant metabolizer phenotype. This study aimed to identify polymorphisms in Indian population owing to scarcity of CYP2D6 data in this population. Materials & methods: The CYP2D6 gene was resequenced in 105 south Indians using next generation sequencing technology and haplotypes were reconstructed. Results & conclusion: Four novel missense variants have been designated as CYP2D6*110, *111, *112 and *113. The most common alleles were CYP2D6*1 (42%), *2 (32%), and *41 (12.3%) and diplotypes were CYP2D6*1/*2 (26%), *1/*1 (11%), *2/*41 (10%) and *1/*41 (7%) accounting for high incidence of extensive metabolizers in Indians.

Keywords::

• CYP2D6
• haplotypes
• Indians
• next generation sequencing

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at:https://www.futuremedicine.com/doi/suppl/10.2217/pgs-2019-0049

Authors’ contributions

A Manoharan was involved in study design, data acquisition, data analysis and preparation of the manuscript. DG Shewade was involved in study design and data acquisition. PA Ravindranath was involved in data analysis and manuscript revision. RP Rajkumar and S Adithan were involved in data acquisition. VL Ramprasad and DS Elango were involved in data acquisition and analysis.

Acknowledgments

We sincerely thank A Gaedigk, Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children’s Mercy – Kansas City, Kansas City, MO, USA, for providing technical expertise in the genetic analysis of CYP2D6.

Financial & competing interest disclosure

The study was supported by JIPMER intramural grant. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

The study was supported by JIPMER intramural grant. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.