An adult-onset autoimmune diabetes often mistaken at first for type 2 diabetes — the first systematic GWAS of LADA, published in 2018, found its strongest genetic risk overlaps with type 1 diabetes, while type 2-diabetes-associated genes also contribute to a lesser degree.
Latent autoimmune diabetes in adults (LADA) is diabetes caused by autoimmune destruction of insulin-producing cells, like type 1 diabetes — but it develops in adulthood and progresses more slowly, which means it is often first diagnosed, and treated, as type 2 diabetes before autoantibody testing reveals the actual mechanism.
Cousminer et al. 2018 ran the first systematic genome-wide association study of LADA, comparing 2,634 European-ancestry LADA cases against 5,947 controls, and separately against cohorts of type 1 diabetes and type 2 diabetes. The paper's own title states its central finding: LADA's strongest genetic risk loci are shared with type 1 diabetes — HLA, the insulin gene region, and PTPN22 — while alleles already known to raise type 2 diabetes risk, such as TCF7L2, also contribute, to a lesser degree. Genetically, LADA sits closer to type 1 diabetes than to type 2, but is not simply either one.
This page's variant, rs1983890 in PFKFB3, reached genome-wide significance in the same study's LADA-vs-controls comparison (p=3×10⁻⁸): each copy of the risk allele (C) was associated with roughly 1.23 times the odds of LADA (95% CI 1.14–1.32). Secondary summaries of this paper describe its T1D- and T2D-overlap genes by name, and PFKFB3 is not among those named — so this page reports it as its own confirmed, independent finding from the study rather than asserting which of those two groups it belongs to.
LADA is diagnosed by autoantibody testing (most often anti-GAD antibodies) in someone with adult-onset diabetes — not by genotype. rs1983890 is not used by any guideline to diagnose LADA or to decide treatment in an individual.
Because LADA is frequently misdiagnosed as type 2 diabetes at first, the practical importance of recognizing it is clinical: LADA tends to progress to insulin dependency faster than typical type 2 diabetes, since the underlying process is autoimmune beta-cell loss rather than insulin resistance alone. The genetics found here describes population-level risk, not a way to make that distinction in an individual — autoantibody testing does that.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Latent Autoimmune Diabetes in Adults (LADA) comes down to these specific, well-studied positions — not a diagnosis.
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Latent Autoimmune Diabetes in Adults (LADA). MyGeneLog™. https://www.mygenelog.com/conditions/latent-autoimmune-diabetes
LADA is diabetes caused by autoimmune destruction of insulin-producing cells, like type 1 diabetes, but developing in adulthood and progressing more slowly — often mistaken at first for type 2 diabetes.
Comparing 2,634 LADA cases against 5,947 controls, and separately against type 1 and type 2 diabetes cohorts, it found LADA's strongest genetic risk overlaps with type 1 diabetes, while type 2-diabetes-associated genes also contribute to a lesser degree.
rs1983890 was independently genome-wide significant in the same study's LADA comparison (p=3×10⁻⁸, odds ratio 1.23 per copy). It is not named among the paper's specific type 1 or type 2 diabetes overlap genes in the summaries available, so this page reports it as its own confirmed finding rather than assigning it to either group.
No. LADA is diagnosed by autoantibody testing (most often anti-GAD antibodies) in someone with adult-onset diabetes, not by genotype.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.