Please use this identifier to cite or link to this item: https://ir.swu.ac.th/jspui/handle/123456789/17182
ชื่อเรื่อง: Exome sequencing identifying LRP2 gene (rs2228171) related hyperuricemia in thai patients with non-communicable diseases
ผู้แต่ง: Makruasi N.
E-Kobon T.
Wannaiampikul S.
Tanunyutthawongse C.
Sangsawangchot P.
Khuancharee K.
Chansiri K.
Keywords: 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
วันที่เผยแพร่: 2021
บทคัดย่อ: 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.
URI: https://ir.swu.ac.th/jspui/handle/123456789/17182
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85116001423&doi=10.35755%2fjmedassocthai.2021.S03.00020&partnerID=40&md5=e31152e32155f86d6a91c69a8db8329d
ISSN: 1252208
Appears in Collections:Scopus 1983-2021

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