Abstract

The study by Jha et al. (2019) demonstrated an association of the single nucleotide polymorphism (SNP) rs2274907 A>T with coronary artery disease (CAD) in 100 CAD patients and 100 matched healthy controls from a South Indian population. There are serious concerns with regard to the interpretations of the study findings. The genotypes of the SNP are not in Hardy–Weinberg equilibrium (HWE) in both cases (p < 0.0001) and controls (p = 0.006), which is indicative of a technical error due to a problematic genotyping method. In addition, the genotype and allele frequencies reported in the study do not match with the frequencies listed in the SNP database for Asian Indians. While the study by Jha et al. reported ”T” allele as the minor allele, the dbSNP database reported ”A” as the minor allele. In summary, it can be concluded that the data presented in the study suffer from genotyping as well as data interpretation error and, hence, the findings should be considered by the reader with caution.

Highlights

  • The study by Jha et al (2019) demonstrated an association of the single nucleotide polymorphism (SNP) rs2274907 A>T with coronary artery disease (CAD) in 100 CAD patients and 100 matched healthy controls from a South Indian population

  • The Hardy–Weinberg equilibrium (HWE) test is commonly used for quality control of genotyping and is one of the few ways to identify systematic genotyping errors [1]

  • Jha et al [2] did not perform the χ2 goodness-of-fit test to test if the genotypes of the single nucleotide polymorphism (SNP) are in HWE

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Summary

Introduction

The study by Jha et al (2019) demonstrated an association of the single nucleotide polymorphism (SNP) rs2274907 A>T with coronary artery disease (CAD) in 100 CAD patients and 100 matched healthy controls from a South Indian population. The Hardy–Weinberg equilibrium (HWE) test is commonly used for quality control of genotyping and is one of the few ways to identify systematic genotyping errors [1]. Jha et al [2] did not perform the χ2 goodness-of-fit test to test if the genotypes of the single nucleotide polymorphism (SNP) are in HWE.

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