Dataset Information

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

ABSTRACT: A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre-diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age-gender-BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels were not as reliable as the OGTT in diagnosing the presence of diabetes. Given the high prevalence of impaired glucose regulation, adults with WS should be screened for diabetes, and when present should be treated in accordance with standard medical practice. Hemizygosity for a gene mapping to the Williams syndrome chromosome region (WSCR) is likely the major factor responsible for the high frequency of diabetes in WS. Syntaxin-1A is a prime candidate gene based on its location in the WSCR, its role in insulin release, and the presence of abnormal glucose metabolism in mouse models with aberrantly expressed Stx-1a.

SUBMITTER: Pober BR

PROVIDER: S-EPMC2882962 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature

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High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Pober B R BR Wang E E Caprio S S Petersen K F KF Brandt C C Stanley T T Osborne L R LR Dzuria J J Gulanski B B

American journal of medical genetics. Part C, Seminars in medical genetics 20100501 2

A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre-diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age-gender-BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels ...[more]

PMID: 20425788

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Project description:With the lack of surveys, surveillance program and/or statistical data, epidemiologic studies can provide a better understanding of diabetes in Sub-Saharan Africa. This was a cross-sectional survey to determine prevalence of diabetes and impaired fasting glucose (IFG) among adults attending six health centres in six different districts of Luanda (Angola) during August-November 2018, followed by a case-control study to assess the risk factors for IFG and diabetes in a subgroup of subjects not receiving treatment for diabetes. Factors associated with diabetes/IFG were assessed using a generalized ordered logit model and the effects were expressed as odds ratios (OR1 for IFG/diabetes vs. no IFG/diabetes; OR2 for diabetes vs. no diabetes) with 95% CI (confidence interval). Some 1,803 participants were included in the survey. Prevalence of diabetes was 12.0% (95%CI 10.5% to 13.5%) and prevalence of IFG was 9.0% (95%CI 7.7% to 10.4%). Older age (OR1 = OR2 1.03, 95%CI 1.02 to 1.04), higher weight (OR1 = OR2 1.01, 95%CI 1.01 to 1.03), having measured glycaemia before (OR2 2.07, 95%CI 1.29 to 3.31), feeling polyuria (OR1 1.93, 95%CI 1.13 to 3.28; OR2 2.18, 95%CI 1.32 to 3.59), feeling polydipsia (OR1 1.92, 95%CI 1.16 to 3.18), feeling weakness (OR1 = OR2 2.22, 95%CI 1.39 to 3.55), consumption of free-sugars food/beverages (OR1 = OR2 2.34, 95%CI 1.44 to 3.81) and time spent seated (OR1 1.80, 95%CI 1.17 to 2.76) were associated with increased likelihood of diabetes and/or IFG, while eating vegetables was associated with decreased likelihood of IFG or diabetes (OR1 = OR2 0.69, 95%CI 0.47 to 0.99). In conclusion, the high prevalence of diabetes and IFG, with common unawareness of the disease, calls for appropriate interventions in Angolan urban settings. Further research may evaluate the impact of context-specific factors to enhance intervention strategies and feed the results into local health policies. In addition, such information may be useful for selecting high-risk subjects to test.

Dataset Information

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Publications

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

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