Sensitive

Alzheimer's disease in APOE e44 or e43 genotype

CASS4 · rs113221226

Where this position leads

What the study found

Who was studied 29,122 European ancestry cases, 164,206 European ancestry controls.

The effect Each copy of the A allele carried 0.84 times the odds of Alzheimer's disease in APOE e44 or e43 genotype (95% confidence interval 0.79-0.89); p = 4 × 10⁻¹⁰.

How common The A allele had a frequency of about 6% in the people studied.

Where it sits Chromosome 20, band 20q13.31 — in an intron of CASS4.

What each result means

A/A Two copies of the version the research linked to Alzheimer's disease in APOE e44 or e43 genotype. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Alzheimer's disease in APOE e44 or e43 genotype. That is a smaller link than two copies.

G/G No copy of the version the research linked to Alzheimer's disease in APOE e44 or e43 genotype. This is the starting point the study compared everyone against.

Source

APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease

Thomassen JQ, Leonard H, Ulms B, Grenier-Boley B, Heikkinen S, Garcia-González P, Castillo-Morales A, Kikuchi M, Gim J, Cao H, Küçükali F, Amin N

and 121 more — show all

Yoon D, de Rojas I, Alvarez Jerez P, Alvarez V, Arosio B, Bellenguez C, Bergh S, Billingsley K, Blauwendraat C, Boada M, Borroni B, Bossù P, Bullido MJ, Daniele A, Carracedo Á, de Mendonça A, Cookson M, Deckert J, Dichgans M, Djurovic S, Dols-Icardo O, Dufouil C, Düzel E, Escott-Price V, Fladby T, Fratiglioni L, Fu AKY, Galimberti D, García-Alberca JM, Giedraitis V, Garcia-Ribas G, Graff C, Grimmer T, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Hort J, Jessen F, Jensen K, Jonson C, Kim Y, Kuznetsov N, Leinonen V, Lipponen A, Luo J, Makarious M, Martiskainen H, Masullo C, Mecocci P, Mehrabian S, Mir P, Miyashita A, Moebus S, Mok KY, Molina Porcel L, Moreno F, Nacmias B, Parnetti L, Pastor P, Pérez-Tur J, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Rainero I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Rongve A, Rossi G, Royo JL, Rujescu D, Saltvedt I, Sáez ME, Sánchez-Valle R, Sanchez-Garcia F, Sandau N, Scarmeas N, Scheffler K, Scherbaum N, Schneider A, Selbæk G, Seripa D, Solfrizzi V, Spallazzi M, Squassina A, Stordal E, Tesi N, Tremolizzo L, Tripathi KP, van der Flier WM, Williams J, Wiltfang J, Aarsland D, Singleton AB, Amouyel P, Debette S, Tsolaki M, Nicolas G, van der Lee S, Holstege H, Fernandez MV, Kehoe PG, Sleegers K, Ingelsson M, Ghidoni R, Andreassen OA, Holmans PA, Sánchez-Juan P, Sims R, Ip NY, Lee KH, Ikeuchi T, Ramirez A, Ruiz A, Hiltunen M, Lambert JC, van Duijn C, Nalls M, Frikke-Schmidt R

Nature genetics · 2026 · PMID 42736378 · open access

Questions about rs113221226

What is rs113221226?

rs113221226 is a single position in the genome, in or near the CASS4 gene. Published research associates it with alzheimer's disease in apoe e44 or e43 genotype. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs113221226 linked to?

On MyGeneLog this position is linked to Alzheimer's Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs113221226 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs113221226 come from?

GWAS Catalog, Nature genetics 2026, PMID:42736378. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Alzheimer's disease in APOE e44 or e43 genotype (rs113221226). MyGeneLog™. https://www.mygenelog.com/variants/rs113221226

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