Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Diabetologia
Published in: Diabetologia 10/2005

01-10-2005 | Article

The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population

Authors: M. C. Y. Ng, K. Miyake, W. Y. So, E. W. M. Poon, V. K. L. Lam, J. K. Y. Li, N. J. Cox, G. I. Bell, J. C. N. Chan

Published in: Diabetologia | Issue 10/2005

Login to get access

Abstract

Aims/hypothesis

The transcription factor upstream stimulatory factor 1 (USF1) regulates the expression of genes involved in glucose and lipid metabolism and has been associated with familial combined hyperlipidaemia. USF1 is located on chromosome 1q22–23, a region with evidence for linkage to type 2 diabetes and various traits of the metabolic syndrome in Chinese and other populations. The aim of this study was to investigate the linkage and association of USF1 with type 2 diabetes and the metabolic syndrome in Chinese individuals.

Materials and methods

We genotyped three haplotype-tagging single nucleotide polymorphisms (SNPs) (rs3737787, rs2516841 and rs2516839) at USF1 in three samples of the Hong Kong Chinese population, including members of 179 families from the Hong Kong Family Diabetes Study, 1,383 hospital cases with type 2 diabetes and/or the metabolic syndrome and 454 normal control subjects.

Results

We found significant association of individual polymorphisms and haplotypes with type 2 diabetes and/or metabolic syndrome-related traits in the family samples using either family-based or unrelated normal control subjects. However, these variants could not explain much of the evidence for linkage in this region. Moreover, they were not associated with type 2 diabetes and/or the metabolic syndrome in the hospital cases.

Conclusions/interpretation

The results are consistent with the hypothesis that variation at USF1 contributes to the risk of type 2 diabetes and the metabolic syndrome in families with strong evidence for linkage in the chromosome 1q region. However, they provide little support for USF1 as the susceptibility locus that generates the observed evidence for linkage at 1q21–25 for type 2 diabetes and/or the metabolic syndrome, and USF1 does not appear to have a major contribution to these phenotypes in the general Chinese population.
Appendix
Available only for authorised users
Literature
1.
Ng MCY, So WY, Cox NJ et al (2004) Genome-wide scan for type 2 diabetes loci in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21–q25. Diabetes 53:1609–1613PubMed
2.
Ng MCY, So WY, Lam VKL et al (2004) Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21–q25. Diabetes 53:2676–2683PubMed
3.
Pajukanta P, Nuotio I, Terwilliger JD et al (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21–q23. Nat Genet 18:369–373CrossRefPubMed
4.
Coon H, Myers RH, Borecki IB et al (2000) Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study. Arterioscler Thromb Vasc Biol 20:2275–2280PubMed
5.
Pei W, Baron H, Muller-Myhsok B et al (2000) Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families. Clin Genet 57:29–34CrossRefPubMed
6.
Arya R, Blangero J, Williams K et al (2002) Factors of insulin resistance syndrome-related phenotypes are linked to genetic locations on chromosomes 6 and 7 in nondiabetic Mexican-Americans. Diabetes 51:841–847PubMed
7.
Broeckel U, Hengstenberg C, Mayer B et al (2002) A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet 30:210–214CrossRefPubMed
8.
Feitosa MF, Borecki IB, Rich SS et al (2002) Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet 70:72–82CrossRefPubMed
9.
McCarthy MI (2003) Growing evidence for diabetes susceptibility genes from genome scan data. Curr Diabetes Rep 3:159–167
10.
Langefeld CD, Wagenknecht LE, Rotter JI et al (2004) Linkage of the metabolic syndrome to 1q23–q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study family study. Diabetes 53:1170–1174PubMed
11.
Pajukanta P, Lilja HE, Sinsheimer JS et al (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat Genet 36:371–376CrossRefPubMed
12.
Shoulders CC, Naoumova RP (2004) USF1 implicated in the aetiology of familial combined hyperlipidaemia and the metabolic syndrome. Trends Mol Med 10:362–365CrossRefPubMed
13.
Chan JCN, Lau M, Wong R et al (1997) Delivery of diabetes care—the experience at the Prince of Wales Hospital. Hosp Authority Qual Bull 2:3–21
14.
Alberti KGMM, Zimmet PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1. Diagnosis and classification of diabetes mellitus, provisional report of a WHO consultation. Diabet Med 15:539–553CrossRefPubMed
15.
Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (2001) Executive summary of the third report of the National Cholesterol Education Program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III). JAMA 285:2486–2497
16.
Matthews RD, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC (1985) Homeostasis model assessment: insulin resistance and β cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28:412–419CrossRefPubMed
17.
International Obesity Task Force (2000) The Asia-Pacific perspective: redefining obesity and its treatment. World Health Organization, Western Pacific Region
18.
Abecasis GR, Cookson WO (2000) GOLD—graphical overview of linkage disequilibrium. Bioinformatics 16:182–183CrossRefPubMed
19.
Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978–989CrossRefPubMed
20.
Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA (2004) Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106–120CrossRefPubMed
21.
O’Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259–266CrossRefPubMed
22.
Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101CrossRefPubMed
23.
Wittke-Thompson JK, Pluzhnikov A, Cox NJ (2005) Rational inferences about departures from Hardy–Weinberg equilibrium. Am J Hum Genet 76:967–986CrossRefPubMed
24.
Sun L, Cox NJ, McPeek MS (2002) A statistical method for identification of polymorphisms that explain a linkage result. Am J Hum Genet 70:399–411CrossRefPubMed
25.
Fingerlin TE, Boehnke M, Abecasis GR (2004) Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. Am J Hum Genet 74:432–443CrossRefPubMed
26.
Lake SL, Blacker D, Laird NM (2000) Family-based tests of association in the presence of linkage. Am J Hum Genet 67:1515–1525CrossRefPubMed
27.
28.
Risch N (1990) Linkage strategies for genetically complex traits: I. Multilocus models. Am J Hum Genet 46:222–228PubMed
29.
Gordon D, Finch SJ, Nothnagel M, Ott J (2002) Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Hum Hered 54:22–33CrossRefPubMed
30.
31.
Pritchard JK, Cox NJ (2002) The allelic architecture of human disease genes: common disease–common variant ... or not? Hum Mol Genet 11:2417–2423CrossRefPubMed
32.
Janus ED (1997) The Hong Kong cardiovascular risk factor prevalence study 1995–1996. Department of Clinical Biochemistry, Queen Mary Hospital of Hong Kong, Hong Kong
33.
Putt W, Palmen J, Nicaud V et al (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II. Hum Mol Genet 13:1587–1597CrossRefPubMed
Metadata
Title
The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population
Authors
M. C. Y. Ng
K. Miyake
W. Y. So
E. W. M. Poon
V. K. L. Lam
J. K. Y. Li
N. J. Cox
G. I. Bell
J. C. N. Chan
Publication date
01-10-2005
Publisher
Springer-Verlag
Published in
Diabetologia / Issue 10/2005
Print ISSN: 0012-186X
Electronic ISSN: 1432-0428
DOI
https://doi.org/10.1007/s00125-005-1914-0

Other articles of this Issue 10/2005

Diabetologia 10/2005 Go to the issue

Short communication

Acute insulin response of donors is correlated with pancreatic islet isolation outcome in the pig

Letter

Comment to: Zalutskaya A, Bornstein SR, Mokhort T, Garmaev D (2004) Did the Chernobyl incident cause an increase in type 1 diabetes mellitus incidence in children and adolescents? Diabetologia 47:147–148 (Letter)

Article

Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes

Article

Hypothalamic AMP-activated protein kinase mediates counter-regulatory responses to hypoglycaemia in rats

Article

The epidemiology of left ventricular hypertrophy in type 2 diabetes mellitus

Article

Glucocorticoid-induced insulin resistance in skeletal muscles: defects in insulin signalling and the effects of a selective glycogen synthase kinase-3 inhibitor
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits