Cited by 329Genetic Associations and EpidemiologyDiabetes and associated disordersGenetic Mapping and Diversity in Plants and Animals

The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits

Florez, Jose C., Hirschhorn, Joel, Altshuler, David·2003·Annual Review of Genomics and Human Genetics

Abstract

Diabetes encompasses a heterogeneous group of diseases, each with a substantial genetic component. We review the division of diabetes into different subtypes based on clinical phenotype, the fruitful pursuit of genes underlying monogenic forms of the disease, the successes and drawbacks of whole-genome linkage scans in type 1 and type 2 diabetes, and the recent identification of several diabetes genes by large association studies. We use the lessons learned from this extensive body of evidence to illustrate general implications for the genetic analysis of complex traits.

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Crossref · 10.1146/annurev.genom.4.070802.110436

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200 of 200 references verified0 citation errors · 0 not checkable

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  • The risk of false negatives was illustrated by T2D and the Pro12 → Ala polymorphism in PPARγ: larger studies produced strong and consistent evidence of increased risk by a factor of 1.2, while negative studies lacked adequate power.

    “Whereas an initial positive report (61) had not been confirmed in four modest-sized replication studies, larger studies produced strong and consistent evidence of increased risk by a factor of 1.2 (62, 63). The negative studies were actually consistent with the level of increased risk, but simply lacked adequate power to detect it.”

    From Genetic Mapping in Human Disease (2008) · cites this paper as [63]

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Authors
Florez, J. C., Hirschhorn, J., & Altshuler, D.
Affiliations
  • Diabetes Unit and Departments of Medicine and Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114,
  • Boston Children's Hospital (US)
Venue
Annual Review of Genomics and Human Genetics
Published
2003-09
Volume
4
Issue
1
Pages
257-291
ISSN
  • 1527-8204 (ISSN-L)
  • 1545-293X
OpenAlex
W2136140188
Cited by
329
References
200
Citations by year
2026: 2 · 2025: 4 · 2024: 7 · 2023: 7 · 2022: 4 · 2021: 6 · 2020: 5 · 2019: 7 · 2018: 10 · 2017: 7 · 2016: 11 · 2015: 21 · 2014: 14 · 2013: 16 · 2012: 13
FWCI
2.72
Type
journal article
Language
en
Open access
closed
Locations
  • Annual Review of Genomics and Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords
diabetes mellitus, type 1 diabetes, type 2 diabetes, monogenic diabetes, linkage analysis, genome-wide association study, complex traits, susceptibility genes, diabetes subtypes
MeSH terms
Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Humans, Genetic Linkage, Genetic Predisposition to Disease

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