Sub-Areas to Genetics:
(Journal Article): Genetics of diabetic nephropathy in the Pima Indians
Imperatore G, Knowler WC, Nelson RG, Hanson RL (Division of Diabetes Translation, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, 4770 Buford Highway, MS-K10, Atlanta, GA 30341, USA,
gai5@cdc.gov
)
IN:
Curr Diab Rep
2001; 3(1):275-81
ABSTRACT: Diabetic nephropathy is the leading cause of renal failure in industrialized countries. There is strong evidence that diabetic nephropathy is influenced by genetic factors. Studies in the Pima Indians as well as in other populations demonstrate that diabetic nephropathy aggregates in families. The hypothesis that the familial aggregation reflects the effect of a major gene was formally tested by segregation analysis of diabetic nephropathy in Pima Indians with type 2 diabetes. The segregation analysis provided strong evidence for a major genetic effect on the prevalence of diabetic nephropathy; this suggests that some of the genetic determinants of diabetic nephropathy may have effects of sufficient magnitude to be detected by linkage analysis. Therefore, we analyzed data from a genome-wide scan to identify susceptibility loci for nephropathy in diabetic Pima Indians. Analyses conducted by both parametric (model-based) and nonparametric methods revealed tentative evidence for nephropathy susceptibility loci on chromosomes 3q, 7q, 18q, and 20p.
TYPE OF PUBLICATION: Review
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(Journal Article): Familial clustering of diabetic nephropathy in Brazilian type 2 diabetic patients
Canani LH, Gerchman F, Gross JL (Hospital de Clinicas de Porto Alegre, Federal University of Rio Grande do Sul, Brazil)
IN:
Diabetes
1999; 48(4):909-13
Impact Factor(s) of Diabetes: 8.848 (2004), 8.298 (2003), 8.256 (2002), 7.7 (2001)
Fulltext: PDF
ABSTRACT: There is evidence for genetic predisposition to diabetic nephropathy in type 1 diabetic patients. However, there are few studies on type 2 diabetic patients, and most of those have been conducted on ethnic minorities or Caucasian individuals. The aim of this study was to ascertain the presence of an inherited predisposition to diabetic nephropathy in a sample of Brazilian type 2 diabetic patients. Families with two or more type 2 diabetic siblings were identified. Subjects with the longest duration of known diabetes were considered probands. Some 90 probands and their 107 diabetic siblings were studied. Urinary albumin excretion rate was measured in a sterile 24-h urine sample on at least three different occasions. Probands and siblings were classified according to urinary albumin excretion rate as normo- (<20 microg/min), micro- (20-200 microg/min), or macroalbuminuric (>200 microg/min). Patients with end-stage renal disease were included in the macroalbuminuric group. Macroalbuminuria was identified in 5.2% of the siblings of normoalbuminuric probands and in 24.1% of the siblings of macroalbuminuric probands (P = 0.024). In multiple logistic regression, the presence of diabetic nephropathy in probands (micro- or macroalbuminuria and end-stage renal disease) was significantly associated with the presence of sibling diabetic nephropathy (odds ratio = 3.75, 95% CI = 1.36-10.40, P = 0.011) adjusted for proband fasting plasma glucose and diabetes duration. Interpretation of these results should take into account the possibility that the families including siblings with diabetic nephropathy may have been overcounted and, on the other hand, that the siblings without diabetic nephropathy may have been undercounted. In conclusion, there is a familial aggregation of diabetic nephropathy in this sample of type 2 diabetic patients.
TYPE OF PUBLICATION: Original article
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