Publication:
Exome sequencing identifying LRP2 gene (rs2228171) related hyperuricemia in thai patients with non-communicable diseases

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Issued Date

2021

Resource Type

Article

Language

eng

File Type

application/pdf

ISSN

1252208

DOI

10.35755/jmedassocthai.2021.S03.00020

Other identifier(s)

2-s2.0-85116001423

Rights Holder(s)

Scopus

Bibliographic Citation

Journal of the Medical Association of Thailand. Vol 104, No.9 (2021), p.S51-S64

Suggested Citation

Makruasi N., E-Kobon T., Wannaiampikul S., Tanunyutthawongse C., Sangsawangchot P., Khuancharee K., Chansiri K. Exome sequencing identifying LRP2 gene (rs2228171) related hyperuricemia in thai patients with non-communicable diseases. Journal of the Medical Association of Thailand. Vol 104, No.9 (2021), p.S51-S64. doi:10.35755/jmedassocthai.2021.S03.00020 Retrieved from: https://hdl.handle.net/20.500.14740/3921

Title

Exome sequencing identifying LRP2 gene (rs2228171) related hyperuricemia in thai patients with non-communicable diseases

Author(s)

Makruasi N.
 E-Kobon T.
 Wannaiampikul S.
 Tanunyutthawongse C.
 Sangsawangchot P.
 Khuancharee K.
 Chansiri K.

Abstract

Background: Although genome-wide association studies have been conducted to investigate the association between genomic loci associated with urate concentrations and gout in a large population. However, there is a lack of information in the Thai population. Objective: To identify the new genetic predisposition of hyperuricemia (HUA) and gout in non-communicable disease patients (NCDs). Materials and Methods: A whole-genome sequencing (WGS) using the Illumina HiSeq X Ten platform (Macrogen, Korea) was performed on the genomic DNA of 4 adult men (HUA, gout, early-onset gout, and normal subjects) who selected from 250 individuals of Gout among Thai Population Study. Then the candidate gene was identified the association of HUA in Thai NCDs patients (n=550). Results: The data set comprised 118,599 single-nucleotide variants were selected in all 4 participants. The missense Ala17Thr (G>A) GLUT9 mutation was found only in early-onset gout. The synonymous Pro1146Pro, A>G RREB1 mutation was identified in HUA and gout. WGS also identified synonymous Ile223Ile (C>T) ABCC4) and non-synonymous Ala2872Thr (G>A) LRP2 mutation in patients with HUA, early-onset gout, and gout. Because a missense of LRP2 (rs2228171) was found in the HUA subject. Thus the frequencies and association of rs2228171 in patients with HUA, hypertension, diabetes mellitus, heart disease, obesity, dyslipidemia, and stroke by using polymerase chain reaction and DNA sequencing analysis were investigated. Seventy-eight of 550 NCDs patients were selected. As result, an association between LRP2 and HUA was not found. The genotypes GA (adjusted OR 0.11, p=0.040), AA (adjusted OR 0.05, p=0.017) were associated with hypertension. However, the effect of rs2228171 in hypertension was still controversial due to the small population. Conclusion: Our study is the first cross-sectional study of the rs2228171 related HUA in Thai NCDs patients. Furthermore, the study will be done to clarify the effect of rs2228171 and metabolic diseases such as hypertension. © JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND, 2021.

Subject(s)

Urate transporter
 Alzheimer disease
 Article
 Body mass
 Brain ischemia
 Cardiovascular disease
 Cardiovascular risk
 Cerebrovascular accident
 Clinical article
 Communicable disease
 Coronary artery disease
 Diabetes mellitus
 Disease predisposition
 DNA polymorphism
 Dyslipidemia
 Gene frequency
 Gene mutation
 Genetic analysis
 Genetic polymorphism
 Genetic predisposition
 Genetic susceptibility
 Genetic variation
 Glucose blood level
 Heterozygosity
 Human
 Hyperlipidemia
 Hypertension
 Hyperuricemia
 Kidney function
 Metabolic disorder
 Missense mutation
 Non communicable disease
 Obesity
 Polymerase chain reaction
 Whole exome sequencing

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URI

https://hdl.handle.net/20.500.14740/3921

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Scopus: Year 1983-2021

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