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Zpráva o onemocněních · Metabolic

Type 1 Diabetes

Whole genome sequencing provides complete HLA-DR/DQ typing (the primary genetic determinants of T1D risk) alongside polygenic risk score variants, enabling stratification of at-risk children for prevention programs and screening in the era of teplizumab.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

Type 1 diabetes (T1D) is an autoimmune disease in which T cell-mediated destruction of pancreatic beta cells results in absolute insulin deficiency. T1D has a strong but complex genetic architecture: heritability is approximately 80%, but penetrance is incomplete, reflecting substantial non-genetic (environmental and infectious) disease modifiers. HLA class II genes account for approximately 40-50% of total T1D genetic risk. The highest-risk HLA haplotype combinations, particularly DR3-DQ2 (HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01) and DR4-DQ8 (HLA-DRB1*04-DQA1*03:01-DQB1*03:02), confer dramatically elevated lifetime T1D risk when inherited in combination.

Children who are DR3/DR4 compound heterozygous (one DR3-DQ2 haplotype and one DR4-DQ8 haplotype) have an approximately 5-10% lifetime risk of T1D, compared to approximately 0.4% in the general population. First-degree relatives of T1D patients with the DR3/DR4 genotype have even higher absolute risk, approaching 15-25% lifetime. HLA-protective haplotypes, particularly HLA-DRB1*15:02 (DR15) paired with DQ6, substantially reduce T1D risk even when present alongside risk alleles. Additional non-HLA loci (INS, PTPN22, CTLA4, IL2RA/CD25) contribute modest individual effects but substantial combined polygenic risk.

The 2022 FDA approval of teplizumab (Tzield), an anti-CD3 monoclonal antibody that delayed T1D onset by a median of 2+ years in high-risk individuals with multiple autoantibodies in the TrialNet study, has transformed the clinical utility of T1D genetic risk stratification. High-risk HLA individuals can now be followed with islet autoantibody screening (stage 1 presymptomatic T1D identification), and those with 2+ autoantibodies qualify for teplizumab, the first disease-modifying therapy to delay or potentially prevent clinical T1D. This makes genetic risk stratification in children and siblings of T1D patients directly actionable in a way that was not possible before 2022.

Monogenic diabetes (MODY), caused by single-gene variants in GCK, HNF1A, HNF4A, and other beta cell transcription factor genes, can mimic early-onset T1D but requires a completely different management approach. Distinguishing T1D from MODY requires complete molecular evaluation.

Onemocnění, které analyzujeme

A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

Co se diagnózou změní

Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

Analyzované geny

Známé také jako

diabetes; diabetes mellitus (disease); DM

Zahrnuje 48 příbuzných podtypů ↓
  • cystic fibrosis-related diabetes
  • DEND syndrome
  • developmental delay, epilepsy, and neonatal diabetes 1
  • developmental delay, epilepsy, and neonatal diabetes 2
  • diabetes mellitus, noninsulin-dependent, 1
  • diabetes mellitus, noninsulin-dependent, 2
  • diabetes mellitus, noninsulin-dependent, 3
  • diabetes mellitus, noninsulin-dependent, 4
  • diabetes mellitus, noninsulin-dependent, 5
  • diabetes mellitus, permanent neonatal 2
  • diabetes mellitus, permanent neonatal 3
  • diabetes mellitus, permanent neonatal 4
  • diabetes mellitus, transient neonatal, 1
  • diabetes mellitus, transient neonatal, 2
  • diabetes mellitus, transient neonatal, 3
  • diabetic ketoacidosis
  • EIF2B1-related permanent neonatal diabetes with transient liver dysfunction
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
  • gestational diabetes
  • intermediate DEND syndrome
  • latent autoimmune diabetes in adults
  • lipoatrophic diabetes
  • maternally-inherited diabetes and deafness
  • maturity-onset diabetes of the young
  • maturity-onset diabetes of the young type 1
  • maturity-onset diabetes of the young type 10
  • maturity-onset diabetes of the young type 11
  • maturity-onset diabetes of the young type 13
  • maturity-onset diabetes of the young type 14
  • maturity-onset diabetes of the young type 2
  • maturity-onset diabetes of the young type 3
  • maturity-onset diabetes of the young type 4
  • maturity-onset diabetes of the young type 6
  • maturity-onset diabetes of the young type 7
  • maturity-onset diabetes of the young type 8
  • maturity-onset diabetes of the young type 9
  • maturity-onset diabetes of the young, type 12
  • monogenic diabetes
  • neonatal diabetes mellitus
  • neonatal diabetes mellitus with congenital hypothyroidism
  • permanent neonatal diabetes mellitus
  • permanent neonatal diabetes mellitus 1
  • permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • renal cysts and diabetes syndrome
  • transient neonatal diabetes mellitus
  • type 1 diabetes mellitus
  • type 2 diabetes mellitus
  • type 5 diabetes mellitus
MONDO:0005015MedGen 8350

Proč sekvenování celého genomu

HLA typing for T1D risk stratification requires high-resolution 4-digit class II allele determination. Whole genome sequencing provides complete HLA-DR/DQ haplotyping alongside polygenic risk score variants and MODY gene evaluation in a single test.

Identifying high-risk HLA enables access to teplizumab prevention, and autoantibody monitoring before symptoms

Teplizumab eligibility requires stage 2 presymptomatic T1D diagnosis: the presence of 2 or more islet autoantibodies and abnormal glucose tolerance. Identifying stage 2 T1D requires systematic autoantibody monitoring, which is targeted toward individuals known to be at elevated genetic risk. Without HLA risk stratification, this monitoring happens only in first-degree relatives of T1D patients (who receive TrialNet screening); the much larger population of genetically at-risk individuals with no T1D family history is not systematically identified. Whole genome sequencing-based HLA typing can identify these high-risk individuals and prompt autoantibody screening and TrialNet enrollment.

Whole genome sequencing simultaneously evaluates MODY genes, distinguishing T1D from treatable monogenic diabetes

Maturity-onset diabetes of the young (MODY), caused by single heterozygous variants in GCK, HNF1A, HNF4A, HNF1B, and other genes, is frequently misdiagnosed as type 1 or type 2 diabetes. MODY accounts for approximately 1-2% of all diabetes diagnoses but may represent up to 5-10% of young-onset diabetes cases. The clinical distinction is critical: GCK-MODY typically requires no treatment; HNF1A and HNF4A-MODY are exquisitely sensitive to sulfonylureas and may not require insulin. Whole genome sequencing evaluates HLA haplotypes for T1D risk alongside complete MODY gene panel sequencing, a combination that resolves the diagnostic ambiguity in atypical young-onset diabetes presentations.

Další metabolic conditions

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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