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Genetic Determinants of Type 2 Diabetes

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Abstract

The project of the 1000 genomes, evidenced the need to study the genetic variability of various populations of the world. The human genome has common or rare variations greater than 1% in the DNA sequence, which gives us different specific phenotypical characteristics among individuals or populations. The term used to name these variations is genetic polymorphism, which refers to the existence within a population of multiple alleles of a gene. Thanks to the genome-wide association study (GWAS), in the last few years, more than 80 signals associated with the phenotype of type 2 diabetes (T2D) have been identified and validated in various populations of the world. Currently, the use of technological tools, together with the sequencing of exomes, has identified a small panel of genetic markers associated with the phenotype for T2D, which can have certain clinical uses in the prevention, diagnosis, prognosis and pharmacological therapy. In conclusion, the GWAS has offered important knowledge of the genetic variants most associated with T2D in the world, highlighting TCFL2, ABCC8, CAPN10, PPAR, CDNKN2A/B, CDKAL1 and IGF2BP2 genes. Other markers are only found to be important in some ethnic groups, so it is a priority to analyze them in order to have answers for early diagnosis and treatment in specific populations. Pharmacogenomic and pharmacogenetic studies will generate more knowledge for personalized treatment in different populations.

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Notes

  1. 1.

    Some definitions are found on the page: https://ghr.nlm.nih.gov/.

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Author information

Authors and Affiliations

  1. Research Laboratory in Immunology and Proteomics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico

    Miguel Cruz

  2. Biochemistry Research Unit, Hospital de Especialidades, Centro Médico Nacional SXXI, IMSS, Mexico City, Mexico

    Miguel Cruz

  3. Unidad de Investigación Médica en Bioquímica, Centro Medico Nacional Siglo XXI. IMSS, Mexico City, Mexico

    Adán Valladares Salgado & José de Jesús Peralta Romero

  4. Laboratorio de Investigación en Epidemiología Clínica y Molecular, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Guerrero, Chilpancingo, Guerrero, Mexico

    Eugenia Flores Alfaro

  5. Multidisciplinary Diabetes Center Mexico, Mexico City, Mexico

    Joel Rodriguez-Saldana

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  1. Miguel Cruz
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  2. Adán Valladares Salgado
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  3. Eugenia Flores Alfaro
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  4. José de Jesús Peralta Romero
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  5. Joel Rodriguez-Saldana
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Editor information

Editors and Affiliations

  1. Mexico City, Mexico

    Joel Rodriguez-Saldana

Glossary

Some definitions are found on the page: https://ghr.nlm.nih.gov/.

Ancestry

The term may refer to the geographical origin of populations, for example, “individuals of European ancestry”, or the line of heritage or descent of a group.

Diabetes

Diabetes is a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both. The chronic hyperglycemia of diabetes is associated with long-term damage, dysfunction, and failure of different organs, especially the eyes, kidneys, nerves, heart, and blood vessels (American Diabetes Association).

Genetic marker

A gene or (a fragment of) DNA sequence having a known location on a chromosome has an easily identifiable phenotype and an inheritance pattern that can be followed. Genetic markers act as chromosomal landmarks. They are used to trace or identify a specific region of a gene (especially one that is associated with an inherited disease) on a chromosome. They are also used to determine a linkage group or a recombination event.

Genome-Wide Association Study (GWAS)

GWAS is a relatively new way to identify genes involved in human disease. This method searches the genome for small variations, called single nucleotide polymorphisms, or SNPs (pronounced “snips”), that occur more frequently in people with a particular disease than in people without the disease. Each study can look at hundreds or thousands of SNPs at the same time. Researchers use data from this type of study to pinpoint genes that may contribute to a person’s risk of developing a certain disease.

Microarrays

A microarray is a hybridization of a nucleic acid sample (target) with a very large set of oligonucleotide probes, which are attached to a solid support, to determine sequence or to detect variations in a gene sequence or expression or for gene mapping.

Single nucleotide polymorphisms (SNPs)

SNPs are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, an SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA.

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Cruz, M., Salgado, A.V., Alfaro, E.F., de Jesús Peralta Romero, J., Rodriguez-Saldana, J. (2023). Genetic Determinants of Type 2 Diabetes. In: Rodriguez-Saldana, J. (eds) The Diabetes Textbook. Springer, Cham. https://doi.org/10.1007/978-3-031-25519-9_10

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  • DOI: https://doi.org/10.1007/978-3-031-25519-9_10

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