ReadYourDNA

Type 1 Diabetes

Where your DNA places you among other people, and the studies behind it.

General information

Not tailored to your result, and not medical advice

Know the Early Warning Signs: Classic symptoms of T1D onset are excessive thirst, frequent urination, unexplained weight loss, fatigue and blurred vision, and they can develop quickly, especially in children. Recognizing them and seeking prompt medical care avoids diabetic ketoacidosis, a life-threatening emergency present in a substantial share of children at diagnosis. Awareness does not prevent T1D, but it can prevent a dangerous first presentation. Breakthrough T1D (formerly JDRF)

Genetics vs Environment

How much of this is genetic?

Genetics explains 85% of why people differ in this trait. The rest is environment, daily habits and chance.

Heritability estimate: Hyttinen et al. 2003, Diabetes

About Type 1 Diabetes

Background and further reading

Type 1 diabetes (T1D) is an autoimmune disease in which the immune system attacks and destroys the insulin-producing beta cells of the pancreas [1]. Unlike type 2 diabetes, it is not caused by diet, body weight, or other lifestyle factors, and it is not preventable through lifestyle changes [1]. It most often appears in childhood or adolescence, but it can be diagnosed at any age, including in adults [1]. People with T1D depend on lifelong insulin therapy to survive. It accounts for roughly 5-10% of all diabetes cases [1]. Modern tools such as insulin pumps and continuous glucose monitoring have substantially improved day-to-day management and long-term outcomes.

Genetic Basis: T1D has a strong genetic component, and the largest single contribution comes from the HLA (human leukocyte antigen) region on chromosome 6 - particularly the HLA-DR3 and HLA-DR4 class II haplotypes. The HLA region accounts for roughly half of the inherited risk, and DR3 and/or DR4 are present in about 90% of people of European ancestry who develop T1D [2]. Even so, genetics is not destiny: when one identical twin has T1D, the other develops it only about half the time, so risk variants raise susceptibility rather than guarantee disease [3]. A large fine-mapping and trans-ancestral study of 61,427 people identified 78 genome-wide-significant regions (36 of them new), many concentrated in immune cells such as CD4+ T cells [2]. Well-studied non-HLA genes include INS (the insulin gene), PTPN22, IL2RA, and CTLA4, all involved in immune regulation and self-tolerance [3].

Environmental Triggers: In genetically susceptible people, environmental exposures are thought to help trigger the autoimmune process, though none has been proven to cause T1D. The factors with the most supporting evidence are enterovirus infection, rapid early-life weight gain, and the gut microbiome, with infant diet and vitamin D status also under study [4]. The incidence of childhood T1D has been rising in many countries by roughly 3-4% per year - a change too fast to be explained by genetics alone, which points toward shifting environmental influences [4]. Importantly, these are associations under active investigation, not established causes, and there is currently no proven way to prevent T1D.

How this was calculated

The published research behind your score, and the variants it draws on.

Study Details

12 published scores from 3 studies

The type 1 diabetes score combines 12 polygenic scores drawn from 3 published studies.

Monti R (2024). Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning. Am J Hum Genet: 63k

Jermy B (2024). A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. Nat Commun: 57k

Privé F (2022). Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort Am J Hum Genet: 107k

Sources

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). What Is Type 1 Diabetes?. NIDDK, National Institutes of Health (2023)

Robertson CC, et al. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. Nature Genetics (2021)

Pociot F, Lernmark A. Genetic risk factors for type 1 diabetes. The Lancet (2016)

Rewers M, Ludvigsson J. Environmental risk factors for type 1 diabetes. The Lancet (2016)

Related Traits

These traits are influenced by some of the same genes and variants as this one

Type 2 Diabetes: A metabolic disorder characterized by insulin resistance and progressive beta cell dysfunction.

Fasting Glucose: Blood sugar levels after overnight fasting, a key marker of metabolic health and diabetes risk.

HbA1c: Glycated hemoglobin, reflecting average blood sugar levels over the past 2-3 months.

Back to All Traits

Content updated August 2026.

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