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Genetics of Diabetic Micro- and Macrovascular Complications

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Book cover The Genetics of Type 2 Diabetes and Related Traits

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Abstract

The micro- and macrovascular long-term complications of diabetes account for the majority of mortality and morbidity in diabetes. The diagnosis of diabetic nephropathy is highly correlated with the presence of other complications and associated with an increased risk of mortality, whereas cardiovascular disease is often the final cause of death in diabetes. While environmental factors, especially the blood glucose level, play an important role in the development of diabetic complications, the familial clustering of diabetic complications suggests that genetic factors affect their risk as well. As for most of the common and complex diseases, linkage studies and candidate gene studies have resulted in only a few robust genetic risk factors for diabetic complications. Whereas genome-wide association studies have identified multiple susceptibility loci for chronic kidney disease and cardiovascular disease in the nondiabetic population, the first results are now emerging from genome-wide association studies on micro-and macrovascular complications in persons with diabetes as well.

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Abbreviations

ACE:

Angiotensin I-converting enzyme

AER:

Albumin excretion rate

AGE:

Advanced glycation end products

BMI:

Body mass index

CAC:

Calcium content

CAD:

Coronary artery disease

CAN:

Cardiovascular autonomic neuropathy

CARe:

Candidate gene association resource

CI:

Confidence interval

cM:

Centimorgan

CVD:

Cardiovascular disease

DCCT:

Diabetes control and complications trial

DN:

Diabetic nephropathy

DR:

Diabetic retinopathy

eGFR:

Estimated glomerular filtration rate

ERα:

Estrogen receptor α

ESRD:

End-stage renal disease

GENIE:

Genetics of nephropathy and international effort

GoKinD:

Genetics of kidneys in diabetes

GWAS:

Genome-wide association study

h2 :

Heritability

JHS:

Joslin heart study

HDL:

High-density lipoprotein

LD:

Linkage disequilibrium

LDL:

Low-density lipoprotein

LOD:

Logarithm of odds

MI:

Myocardial infarction

OR:

Odds ratio

SNP:

Single nucleotide polymorphism

T1D:

Type 1 diabetes

T2D:

Type 2 diabetes

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Authors and Affiliations

  1. Folkhälsan Institute of Genetics, Folkhälsan Research Centre, Helsinki, Finland

    Niina Sandholm & Per-Henrik Groop

  2. Abdominal Center, Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

    Niina Sandholm & Per-Henrik Groop

  3. Baker IDI Heart and Diabetes Institute, Melbourne, VIC, Australia

    Per-Henrik Groop

  4. Research Division, Joslin Diabetes Center, Boston, MA, USA

    Alessandro Doria

  5. Department of Medicine, Harvard Medical School, Boston, MA, USA

    Alessandro Doria

Authors
  1. Niina Sandholm
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  2. Per-Henrik Groop
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  3. Alessandro Doria
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Corresponding author

Correspondence to Alessandro Doria .

Editor information

Editors and Affiliations

  1. Ctr Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA

    Jose C. Florez

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Sandholm, N., Groop, PH., Doria, A. (2016). Genetics of Diabetic Micro- and Macrovascular Complications. In: Florez, J. (eds) The Genetics of Type 2 Diabetes and Related Traits. Springer, Cham. https://doi.org/10.1007/978-3-319-01574-3_7

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