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Article

The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert’s Syndrome Affecting the Taiwanese Population

by
Paul Wei-Che Hsu
1,
Po-Cheng Liao
2,
Yu-Hsiang Kao
2,
Xin-Yu Lin
2,
Rong-Nan Chien
2,3,4,
Chau-Ting Yeh
3,4,
Chi-Chun Lai
2,5,
Yu-Chiau Shyu
2,6,* and
Chih-Lang Lin
2,3,4,7,*
1
Institute of Molecular and Genomic Medicine, National Health Research Institute, Zhunan 350, Taiwan
2
Community Medicine Research Center, Chang Gung Memorial Hospital, Keelung Branch, Keelung 204, Taiwan
3
Liver Research Center, Chang Gung Memorial Hospital, Taoyuan 333, Taiwan
4
College of Medicine, Chang Gung University, Taoyuan 333, Taiwan
5
Department of Ophthalmology, Chang Gung Memorial Hospital, Keelung 204, Taiwan
6
Department of Nursing, Chang Gung University of Science and Technology, Taoyuan 259, Taiwan
7
Liver Research Unit, Keelung Chang Gung Memorial Hospital, Keelung 204, Taiwan
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2022, 23(20), 12709; https://doi.org/10.3390/ijms232012709
Submission received: 29 August 2022 / Revised: 17 October 2022 / Accepted: 18 October 2022 / Published: 21 October 2022
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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Abstract

Gilbert’s syndrome is mainly diagnosed through genetic analysis and is primarily detected through a mutation in the promoter region of the UGT1A1 gene. However, most of the research has been conducted on Caucasian populations. In this study, we studied the Han population in Taiwan to investigate the possibility of other mutations that could cause Gilbert’s syndrome. This study comprised a test group of 45 Taiwanese individuals with Gilbert’s syndrome and 180 healthy Taiwanese individuals as a control group. We extracted DNA from the blood samples and then used Axiom Genome-Wide TWB 2.0 array plates for genotyping. Out of 302,771 single nucleotide polymorphisms (SNPs) from 225 subjects, we detected 57 SNPs with the most significant shift in allele frequency; 27 SNPs among them were located in the UGT1A region. Most of the detected SNPs highly correlated with each other and are located near the first exon of UGT1A1, UGT1A3, UGT1A6, and UGT1A7. We used these SNPs as an input for the machine learning algorithms and developed prediction models. Our study reveals a good association between the 27 SNPs detected and Gilbert’s syndrome. Hence, this study provides a reference for diagnosing Gilbert’s syndrome in the Taiwanese population in the future.
Keywords: Gilbert’s syndrome; genetic factors; single nucleotide polymorphism; machine learning Gilbert’s syndrome; genetic factors; single nucleotide polymorphism; machine learning

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MDPI and ACS Style

Hsu, P.W.-C.; Liao, P.-C.; Kao, Y.-H.; Lin, X.-Y.; Chien, R.-N.; Yeh, C.-T.; Lai, C.-C.; Shyu, Y.-C.; Lin, C.-L. The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert’s Syndrome Affecting the Taiwanese Population. Int. J. Mol. Sci. 2022, 23, 12709. https://doi.org/10.3390/ijms232012709

AMA Style

Hsu PW-C, Liao P-C, Kao Y-H, Lin X-Y, Chien R-N, Yeh C-T, Lai C-C, Shyu Y-C, Lin C-L. The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert’s Syndrome Affecting the Taiwanese Population. International Journal of Molecular Sciences. 2022; 23(20):12709. https://doi.org/10.3390/ijms232012709

Chicago/Turabian Style

Hsu, Paul Wei-Che, Po-Cheng Liao, Yu-Hsiang Kao, Xin-Yu Lin, Rong-Nan Chien, Chau-Ting Yeh, Chi-Chun Lai, Yu-Chiau Shyu, and Chih-Lang Lin. 2022. "The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert’s Syndrome Affecting the Taiwanese Population" International Journal of Molecular Sciences 23, no. 20: 12709. https://doi.org/10.3390/ijms232012709

APA Style

Hsu, P. W.-C., Liao, P.-C., Kao, Y.-H., Lin, X.-Y., Chien, R.-N., Yeh, C.-T., Lai, C.-C., Shyu, Y.-C., & Lin, C.-L. (2022). The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert’s Syndrome Affecting the Taiwanese Population. International Journal of Molecular Sciences, 23(20), 12709. https://doi.org/10.3390/ijms232012709

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