Evidence map›Paper›PMID 31578463›Full record

ArticleThe pharmacogenomics journal2019

Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms.

Maulana Bachtiar, Brandon Nick Sern Ooi, Jingbo Wang, Yu Jin, Tin Wee Tan, Samuel S Chong, Caroline G L Lee

Abstract read
In one paragraph

Article in The pharmacogenomics journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

17 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  14. Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus.International journal of general medicine · 2021
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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

7 authors.

Maulana BachtiarDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Brandon Nick Sern OoiDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Jingbo WangDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Yu JinDivision of Medical Sciences, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, Singapore, Singapore.
Tin Wee TanDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Samuel S ChongDepartment of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Caroline G L LeeDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchleec@nus.edu.sg.ORCID http://orcid.org/0000-0002-4323-3635

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Drug response variations amongst different individuals/populations are influenced by several factors including allele frequency differences of single nucleotide polymorphisms (SNPs) that functionally affect drug-response genes. Here, we aim to identify drugs that potentially exhibit population differences in response using SNP data mining and analytics. Ninety-one pairwise-comparisons of >22,000,000 SNPs from the 1000 Genomes Project, across 14 different populations, were performed to identify 'population-differentiated' SNPs (pdSNPs). Potentially-functional pdSNPs (pf-pdSNPs) were then selected, mapped into genes, and integrated with drug-gene databases to identify 'population-differentiated' drugs enriched with genes carrying pf-pdSNPs. 1191 clinically-approved drugs were found to be significantly enriched (Z > 2.58) with genes carrying SNPs that were differentiated in one or more population-pair comparisons. Thirteen drugs were found to be enriched with such differentiated genes across all 91 population-pairs. Notably, 82% of drugs, which were previously reported in the literature to exhibit population differences in response were also found by this method to contain a significant enrichment of population specific differentiated SNPs. Furthermore, drugs with genetic testing labels, or those suspected to cause adverse reactions, contained a significantly larger number (P < 0.01) of population-pairs with enriched pf-pdSNPs compared with those without these labels. This pioneering effort at harnessing big-data pharmacogenomics to identify 'population differentiated' drugs could help to facilitate data-driven decision-making for a more personalized medicine.

Indexed as

Gene FrequencyGenetics, PopulationGenome, HumanHumansPharmaceutical PreparationsPharmacogeneticsPolymorphism, Single NucleotidePrecision MedicineSignal TransductionPharmaceutical Preparations

Identifiers

PMID31578463
PMCPMC6867962

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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.