Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree.

Type 2 diabetes (T2D) is a chronic disease that disproportionately affects Indigenous Australians. We have previously reported the localization of a novel T2D locus by linkage analysis to chromosome 2q24 in a large admixed Indigenous Australian pedigree (Busfield et al. (2002).

Association between anthropometric measures of obesity and cardiovascular risk markers in a self-selected group of indigenous Australians.

Background: Indigenous Australians have a high prevalence of obesity and an unacceptably high rate of cardiovascular disease.

Methods: We conducted a cross-sectional analysis of 93 high-risk indigenous Australians to assess how strongly three anthropometric measures correlated with known cardiovascular risk factors.

Results: Both waist circumference and body mass index were strongly associated with important risk factors.

Association between anthropometric measures of obesity and insulin resistance in a self-selected group of Indigenous Australians.

Anthropometric markers of obesity are simple means that may be used as markers of cardiovascular risk and insulin resistance. We compare body mass index, waist circumference and waist hip ratio as tools to screen for insulin resistance in 81 overweight Indigenous Australians using ROC curve analysis. Body mass index and waist circumference emerged as better predictors of insulin resistance compared with waist hip ratio.

Short term efficacy of a lifestyle intervention programme on cardiovascular health outcome in overweight Indigenous Australians with and without type 2 diabetes mellitus. The healthy lifestyle programme (HELP).

We aim to examine the short-term efficacy of a lifestyle intervention programme on cardiovascular risk factors in overweight urban Indigenous Australians with and without type 2 diabetes mellitus. One hundred and one urban Indigenous Australians in Queensland voluntarily participated in a culturally appropriate lifestyle intervention programme based on improving physical activity and dietary intake; 44 had type 2 diabetes, 11 had impaired fasting glucose and 46 were euglycaemic. Efficacy of the intervention on biochemical and physical markers of cardiovascular outcome will be monitored over 2 years.

Carotid artery intimal medial thickness, brachial artery flow-mediated vasodilation and cardiovascular risk factors in diabetic and non-diabetic indigenous Australians.

Background: Indigenous Australians are at high risk for cardiovascular disease and type 2 diabetes. Carotid artery intimal medial thickness (CIMT) and brachial artery flow-mediated vasodilation (FMD) are ultrasound imaging based surrogate markers of cardiovascular risk. This study examines the relative contributions of traditional cardiovascular risk factors on CIMT and FMD in adult Indigenous Australians with and without type 2 diabetes mellitus.

Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

We have conducted a genome-wide scan on a pedigree containing 372 adult members, of whom 49 have PDB. In the present study, we report linkage of a large pedigree to the PDB3 region on chromosome 5q35-qter with a peak multipoint LOD score of 6.77.

A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians.

The prevalence of type 2 diabetes among Australian residents is 7.5%; however, prevalence rates up to six times higher have been reported for indigenous Australian communities. Epidemiological evidence implicates genetic factors in the susceptibility of indigenous Australians to type 2 diabetes and supports the hypothesis of the "thrifty genotype," but, to date, the nature of the genetic predisposition is unknown.

Linkage of Paget disease of bone to a novel region on human chromosome 18q23.

Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees.