https://scholars.lib.ntu.edu.tw/handle/123456789/495657
標題: | Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity | 作者: | Olivier M. Hsiung C.A. LEE-MING CHUANG Ho L.-T. Ting C.-T. Bustos V.I. Lee T.M. de Witte A. Chen Y.-D.I. Olshen R. Rodriquez B. Wen C.-C. Cox D.R. |
公開日期: | 2004 | 卷: | 13 | 期: | 17 | 起(迄)頁: | 1885-1892 | 來源出版物: | Human Molecular Genetics | 摘要: | Protein tyrosine phosphatase 1β (PTP-1β) is involved in the regulation of several important physiological pathways. It regulates both insulin and leptin signaling, and interacts with the epidermal- and platelet-derived growth factor receptors. The gene is located on human chromosome 20q13, and several rare single nucleotide polymorphisms (SNPs) have been shown to be associated with insulin resistance and diabetes in different populations. As part of our ongoing investigations into the genetic basis of hypertension, we examined common sequence variants in the gene for association with hypertension, obesity and altered lipid profile in two populations of Japanese and Chinese descent. We re-sequenced all exons, selected intronic sequences and the promoter region in 24 individuals from our cohort. Fourteen SNPs were discovered, and six of these spanning 78 kb were genotyped in 1553 individuals from 672 families. All six SNPs were in linkage disequilibrium, and we found strong association of common risk haplotypes with hypertension in Chinese and Japanese (P<0.0001). In addition, individual SNPs showed association to total plasma cholesterol, LDL-cholesterol and VLDL-cholesterol levels, as well as obesity measures (body mass index). This analysis supports that PTP-1β affects plasma lipid levels, and may lead to obesity and hypertension in Japanese and Chinese. Given similar associations found in other populations to insulin resistance and diabetes, this gene may play a crucial role in the development of the characteristic metabolic changes seen in patients with the metabolic syndrome. ? Oxford University Press 2004; all rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-4544345528&doi=10.1093%2fhmg%2fddh196&partnerID=40&md5=42b93d4e98c8b4a74bf81ca4897609c0 https://scholars.lib.ntu.edu.tw/handle/123456789/495657 |
ISSN: | 0964-6906 | DOI: | 10.1093/hmg/ddh196 | SDG/關鍵字: | cholesterol; lipid; low density lipoprotein cholesterol; protein tyrosine phosphatase 1B; very low density lipoprotein cholesterol; adult; aged; article; body mass; Chinese; cholesterol blood level; cohort analysis; controlled study; diabetes mellitus; essential hypertension; exon; family; female; gene linkage disequilibrium; genetic association; genetic risk; genetic variability; genotype; haplotype; human; insulin resistance; intron; Japan; lipid blood level; major clinical study; male; metabolic syndrome X; obesity; pathogenesis; population genetics; priority journal; promoter region; sequence analysis; single nucleotide polymorphism; statistical significance; Adult; Asian Continental Ancestry Group; Body Mass Index; China; Cholesterol; Cohort Studies; Gene Components; Gene Frequency; Haplotypes; Humans; Hypertension; Japan; Linkage Disequilibrium; Obesity; Polymorphism, Single Nucleotide; Protein-Tyrosine-Phosphatase; Sequence Analysis, DNA |
顯示於: | 醫學系 |
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