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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Updated: May 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Ensuring HbA1c Accuracy and Variant Detection in Hemoglobin G-Coushatta and Queens Using Variant Mode Analysis.

Yeon Jae Lee¹, Jong Do Seo¹, Mi-Hyun Hong¹

¹Department of Laboratory Medicine, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul 05030, Republic of Korea.

Diagnostics (Basel, Switzerland)

|May 13, 2026

Summary

This summary is machine-generated.

HbA1c assay accuracy varies with common Korean Hb variants like Coushatta and Queens. Variant modes improve detection but accuracy differs by platform, necessitating their use when variant status is unknown.

Keywords:

Arkray ADAMS HA-8190V Bio-Rad D-100 Hemoglobin G-Coushatta Hemoglobin Queens Sebia Capillarys 2 Flex Piercing Tosoh HLC-723 G11 glycated hemoglobin

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Area of Science:

Clinical Chemistry
Laboratory Medicine
Analytical Biochemistry

Background:

Glycated hemoglobin (HbA1c) is crucial for monitoring glycemic control.
Hb variants, particularly Hb G-Coushatta and Hb Queens, are prevalent in the Korean population.
These variants can impact the accuracy and reliability of HbA1c assays.

Purpose of the Study:

To evaluate the analytical performance of four HbA1c platforms in the presence of Hb G-Coushatta and Hb Queens.
To assess the accuracy and flag detection rates of different HbA1c assay modes (fast, standard, variant).

Main Methods:

Four HbA1c platforms (Arkray HA-8190V, Tosoh HLC-723 G11, Bio-Rad D-100, Sebia Capillarys) were tested.
33 samples with known Hb variants (26 Coushatta, 7 Queens) were analyzed.
Performance was evaluated by comparing HbA1c results to a comparative method and assessing variant flag detection rates, with UPLC-MS/MS as the reference for variant identification.

Main Results:

Hb G-Coushatta caused significant underestimation in fast assay modes (-28.4% to -17.6%).
Hb Queens hindered automated detection in some standard modes (28.6% flag detection).
Variant modes generally improved accuracy and detection (e.g., 100% flag detection for all platforms except G11 standard mode) but showed platform-dependent performance.

Conclusions:

Hb G-Coushatta and Hb Queens present challenges for standard HbA1c assays, especially in rapid modes.
Variant-aware HbA1c testing modes are essential for accurate results in populations with common Hb variants.
Selection of the appropriate HbA1c platform and mode is critical for reliable glycemic control monitoring when Hb variants are present.