An autoimmune disease with strong heritability. HLA genetics drives half the risk — know yours.
helixXY analyzes variants in HLA-DQ/DR, INS, PTPN22, CTLA4, IL2RA and IFIH1 — the main loci that determine susceptibility to autoimmune destruction of pancreatic beta cells.
Type 1 Diabetes is an autoimmune disease in which self-reactive T lymphocytes destroy pancreatic beta cells — the only cells that produce insulin. When 80–90% of beta cells are lost, hyperglycemia manifests clinically.
The genetic component is dominant. The HLA class II region (DQ/DR) accounts for about 50% of heritability, and more than 60 additional loci — primarily in immune regulation genes such as INS, PTPN22, CTLA4, and IL2RA — complete the picture.
helixXY maps your HLA profile and the main non-HLA loci, classifying your risk against the population. Especially useful for relatives of people with T1D, who can benefit from sequential autoantibody monitoring.
DR3-DQ2 and DR4-DQ8 haplotypes account for most of the genetic risk. DR3-DQ2/DR4-DQ8 heterozygotes have the highest risk — up to 20× the general population.
In high-risk relatives, sequential surveillance of anti-GAD, anti-IA2, and anti-ZnT8 allows identifying disease in the pre-clinical phase and considering preventive therapies.
Use your file from 23andMe, Genera, AncestryDNA, etc. Within 15 minutes of upload, your complete report is ready — no new sample required.
helixXY analyzes the highest-impact HLA and non-HLA loci identified across more than 90 GWAS for Type 1 Diabetes.
The HLA class II region (DQA1, DQB1, DRB1) is by far the primary genetic determinant of Type 1 Diabetes. The DR3-DQ2 and DR4-DQ8 haplotypes (especially in compound heterozygosity) increase risk by up to 20×. These alleles alter the presentation of self-antigens from pancreatic beta cells.
Insulin gene — the central self-antigen in Type 1 Diabetes. The VNTR (Variable Number Tandem Repeat) in the INS promoter regulates thymic expression of insulin and central immune tolerance. Class I alleles increase risk; class III are protective.
Non-receptor protein tyrosine phosphatase 22, regulator of T and B lymphocyte activation. The R620W variant (rs2476601) is the second-strongest risk locus for autoimmune diabetes, also for rheumatoid arthritis and lupus. Confers anomalous gain of inhibitory function.
Cytotoxic T-Lymphocyte Antigen 4, negative regulator of the T cell response. CTLA4 variants reduce the immune system's ability to suppress self-reactivity. Shared with other autoimmune diseases (Hashimoto's, Graves' disease, celiac disease).
Alpha subunit of the IL-2 receptor, essential for the function of regulatory T cells (Tregs). IL2RA variants impair peripheral tolerance, allowing self-reactive T cells to escape and destroy beta cells.
Cytoplasmic sensor for viral RNA (especially enteroviruses like Coxsackie B). IFIH1 variants alter innate antiviral response and the risk of viral triggering of pancreatic autoimmunity. Direct connection between viral infection and Type 1 Diabetes.
Additional loci also analyzed: The complete report also includes variants in TYK2, ERBB3, CLEC16A, BACH2, IL10, SH2B3 and other smaller-effect loci identified in T1DGC GWAS meta-analyses.
Your HLA profile defines the foundation of genetic risk. helixXY classifies into three categories.
Absence of DR3-DQ2 and DR4-DQ8, presence of protective alleles (DR15-DQ6, DRB1*1501). Risk close to the population minimum (~0.4%).
One risk haplotype in heterozygosity. Estimated lifetime risk between 2–5% — 5–10× above the population average.
Both major risk haplotypes. Lifetime risk of 10–20% in first-degree relatives of people with T1D — up to 20× the general population.
An interpreted, contextualized, and actionable report — not just a list of variants.
We identify your HLA class II haplotypes — the most relevant for autoimmune risk. Clear classification between risk, neutral, and protective haplotypes.
We combine HLA with non-HLA loci into a Genetic Risk Score (T1D-GRS) validated in TrialNet and DAISY cohorts — predictive of progression to clinical diabetes.
Each finding is explained with reference to the literature, absolute and relative risk percentages, and contextualization based on your age range.
Recommendations on when to test autoantibodies (anti-GAD, IA2, ZnT8) based on your genetic risk — useful for pre-clinical surveillance in T1D families.
As new loci are discovered and prevention trials (such as teplizumab) advance, your report is automatically revised — at no additional cost.
Your data is processed with AES-256 encryption in a zero-knowledge architecture. Full GDPR compliance.
Type 1 Diabetes symptoms typically appear over weeks. In carriers of genetic risk, increased attention is warranted.
Marked increase in urinary frequency, especially at night. Children may begin bedwetting again.
Excessive and persistent thirst, even after drinking plenty of fluids. Constant dry mouth.
Unintentional and rapid weight loss (over weeks), even with increased appetite — characteristic sign.
Marked increase in appetite associated with weight loss. Cells cannot use glucose effectively.
Fruity-smelling breath (acetone), nausea, vomiting, abdominal pain, and rapid breathing. Medical emergency.
Intense tiredness disproportionate to effort. Blurred vision from osmotic changes in the lens.
Our analysis integrates data from the Type 1 Diabetes Genetics Consortium (T1DGC), TrialNet, DAISY, and GWAS meta-analyses with over 60,000 individuals — aligned with ADA, ISPAD, and EASD guidelines.
Clear, evidence-based answers about genetics and Type 1 Diabetes.
Important medical notice: The information provided by helixXY is for educational and informational purposes only. It does not constitute a diagnosis, clinical laboratory report, or substitute for medical consultation. Diagnosis of Type 1 Diabetes requires laboratory glucose, HbA1c and pancreatic autoantibodies evaluated by an endocrinologist. Always consult a qualified professional for interpretation and guidance.
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