Evidence map›Paper›PMID 35169154›Full record

ArticleNPJ genomic medicine2022

A population study of clinically actionable genetic variation affecting drug response from the Middle East.

Puthen Veettil Jithesh, Mohammed Abuhaliqa, Najeeb Syed, Ikhlak Ahmed, Mohammed El Anbari, Kholoud Bastaki, Shimaa Sherif, Umm-Kulthum Umlai, Zainab Jan, Geethanjali Gandhi and 10 more

Open access · goldAbstract read
In one paragraph

Article in NPJ genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
9.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 48 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 8 institutions in 4 countries.

Puthen Veettil JitheshCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. jveettil@hbku.edu.qa.ORCID http://orcid.org/0000-0001-7747-0930
Mohammed AbuhaliqaResearch Branch, Sidra Medicine, Doha, Qatar.
Najeeb SyedResearch Branch, Sidra Medicine, Doha, Qatar.
Ikhlak AhmedResearch Branch, Sidra Medicine, Doha, Qatar.ORCID http://orcid.org/0000-0002-5753-9627
Mohammed El AnbariResearch Branch, Sidra Medicine, Doha, Qatar.
Kholoud BastakiCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Shimaa SherifCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Umm-Kulthum UmlaiCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.ORCID http://orcid.org/0000-0002-4150-5027
Zainab JanCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Geethanjali GandhiCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Chidambaram ManickamResearch Branch, Sidra Medicine, Doha, Qatar.
Senthil SelvarajResearch Branch, Sidra Medicine, Doha, Qatar.ORCID http://orcid.org/0000-0002-0185-6033
Chinnu GeorgeResearch Branch, Sidra Medicine, Doha, Qatar.
Dhinoth BangarusamyCollege of Health & Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Rania Abdel-LatifQatar Genome Program, Qatar Foundation Research Development and Innovation, Doha, Qatar.
Mashael Al-ShafaiDepartment of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.
Zohreh Tatari-CalderoneResearch Branch, Sidra Medicine, Doha, Qatar.
Xavier EstivillQuantitative Genomics Laboratories, Barcelona, Catalonia, Spain.
Munir PirmohamedInstitute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.ORCID http://orcid.org/0000-0002-7534-7266
Qatar Genome Program Research Consortium
Qatar Foundation · QAHamad bin Khalifa University · QAWeill Cornell Medical College in Qatar · QAQatar University · QAOryzon Genomics (Spain) · ESHamad Medical Corporation · QAUniversity of Liverpool · GBCornell University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical implementation of pharmacogenomics will help in personalizing drug prescriptions and alleviate the personal and financial burden due to inefficacy and adverse reactions to drugs. However, such implementation is lagging in many parts of the world, including the Middle East, mainly due to the lack of data on the distribution of actionable pharmacogenomic variation in these ethnicities. We analyzed 6,045 whole genomes from the Qatari population for the distribution of allele frequencies of 2,629 variants in 1,026 genes known to affect 559 drugs or classes of drugs. We also performed a focused analysis of genotypes or diplotypes of 15 genes affecting 46 drugs, which have guidelines for clinical implementation and predicted their phenotypic impact. The allele frequencies of 1,320 variants in 703 genes affecting 299 drugs or class of drugs were significantly different between the Qatari population and other world populations. On average, Qataris carry 3.6 actionable genotypes/diplotypes, affecting 13 drugs with guidelines for clinical implementation, and 99.5% of the individuals had at least one clinically actionable genotype/diplotype. Increased risk of simvastatin-induced myopathy could be predicted in ~32% of Qataris from the diplotypes of SLCO1B1, which is higher compared to many other populations, while fewer Qataris may need tacrolimus dosage adjustments for achieving immunosuppression based on the CYP3A5 diplotypes compared to other world populations. Distinct distribution of actionable pharmacogenomic variation was also observed among the Qatari subpopulations. Our comprehensive study of the distribution of actionable genetic variation affecting drugs in a Middle Eastern population has potential implications for preemptive pharmacogenomic implementation in the region and beyond.

Identifiers

PMID35169154
PMCPMC8847489
OpenAlexW4212817216

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.