Human Molecular Genetics Advance Access published online on June 30, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh196
© 2004 by Oxford University Press
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1 Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA; Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226
* To whom correspondence should be addressed. E-mail: molivier{at}mcw.edu.
Protein Tyrosine Phosphatase 1 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 (BMI). This analysis supports that PTP-1
Article
Single nucleotide polymorphisms in protein tyrosine phosphatase 1
(PTPN1) are associated with essential hypertension and obesity
2 Division of Biostatistics and Bioinformatics, National Health Research Institutes, Taipei, Taiwan
3 Department of Internal Medicine, National Taiwan University, Taipei, Taiwan
4 Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
5 Division of Cardiology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan
6 Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA
7 Department of Medicine, Cedars-Sinai Medical Center, University of California, Los Angeles, CA
8 Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA
9 Pacific Health Research Institute, Honolulu, HI
10 Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA; Perlegen Sciences, 2021 Stierlin Court, Mountain View, CA
Abstract 
(PTP-1) 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. 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.
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