Sequencings

Markers / KCNJ11

rs5219

KCNJ11, the channel that sulfonylurea drugs act on

GeneKCNJ11
Positionchr11:17,409,572
VersionsC / T
Evidenceestablished

What this position does

This potassium channel is the trigger that tells a pancreatic cell to release insulin. It is also exactly what the sulfonylurea class of diabetes drugs binds to, which makes this one of the few diabetes variants with a direct line to treatment.

Pancreas. Shaped by the switch that releases insulin. This is one of the variants that differs sharply between human populations, because something in the environment made one version worth having.

Insulin, and a food supply that changed

How much insulin the pancreas puts out, and when. These variants differ between populations and were mapped through type 2 diabetes, a disease that was rare before the food supply changed.

What changed: Industry, roughly the last two centuries. Indoor work, heated buildings, refined food, cheap salt and sugar, tobacco at scale, and a collapse in infectious disease. This is where most of the deals in your genome came undone.

Why it spread: nobody knows. The frequency difference between populations is real and measured. What the variant was worth having for is not known, and any site that tells you is guessing.

Spiral Staircase, chapter 13: The Thrifty Body Spiral Staircase is written by the same author as this site.

What each result means

If you carryWhat it means
No copies of the effect version
CC
You have the lower-risk version on both copies
The common version at this position.
One copy
CT
You carry one higher-risk copy
Associated with a small increase in type 2 diabetes risk.
Two copies
TT
You have the higher-risk version on both copies
Associated with roughly 1.15 times the background risk. Some studies find carriers respond slightly better to sulfonylureas, though not consistently enough to guide prescribing.

How common each version is

Ancestry groupT (the effect version)
African2.3%
American29.3%
East Asian33.8%
European35.3%
South Asian39.6%

1000 Genomes Project phase 3, via Ensembl, retrieved 2026-09-23. These groupings are coarse and flatten a great deal of internal diversity, particularly within Africa. A variant being common somewhere tells you where a piece of your ancestry probably comes from, and nothing else.

How many people carry each result

Ancestry groupCCCTTT
African632 / 66127 / 6612 / 661
European201 / 503249 / 50353 / 503
East Asian216 / 504235 / 50453 / 504
South Asian186 / 489219 / 48984 / 489
American172 / 347147 / 34728 / 347

Counts of people, not modelled frequencies: every one of the 2,504 individuals sequenced by the 1000 Genomes Project phase 3, tallied by the genotype they carry. Deriving these from allele frequencies instead would assume random mating inside each group and undercount the homozygotes.

How to find out which you have

If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.

One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.

Source

Gloyn et al., Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel, Diabetes (2003)

Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Population adaptation.

Where this fits

Common questions

What is rs5219?

rs5219 is a position in the KCNJ11 gene on chromosome 11. This potassium channel is the trigger that tells a pancreatic cell to release insulin. It is also exactly what the sulfonylurea class of diabetes drugs binds to, which makes this one of the few diabetes variants with a direct line to treatment.

What does it mean if I have TT at rs5219?

You have the higher-risk version on both copies. Associated with roughly 1.15 times the background risk. Some studies find carriers respond slightly better to sulfonylureas, though not consistently enough to guide prescribing.

What does it mean if I have CC at rs5219?

You have the lower-risk version on both copies. The common version at this position.

How do I find out my rs5219 genotype?

If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.

This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Population adaptation.