Gatz · Archives of general psychiatry 2006 · Population-based twin study · n=11,884 twin pairs (392 affected pairs)

Role of genes and environments for explaining Alzheimer disease.

Cited 1876 times in the scientific literature.

Level 3 - non-randomized controlled study

Large population-based twin cohort study using quantitative genetic modeling

PubMed 16461860 · doi:10.1001/archpsyc.63.2.168 · record verified 2026-08-29

What was done

All twin pairs aged 65 years and older from the Swedish Twin Registry (11,884 pairs) were screened for cognitive dysfunction. Suspected dementia cases and their co-twins received complete clinical diagnostic evaluations for Alzheimer disease (AD), yielding 392 pairs where one or both members were affected. A five-group quantitative genetic model (male monozygotic, female monozygotic, male dizygotic, female dizygotic, and unlike-sex pairs) was used to estimate age-adjusted heritability and shared versus nonshared environmental influences.

What was found

Heritability of AD was estimated to be 58% in the full model and 79% in the best-fitting model, with nonshared environmental influences explaining the balance of variation. There were no significant differences in prevalence or heritability between men and women after controlling for age. Among concordant pairs, intrapair difference in age at onset was significantly larger in dizygotic pairs than in monozygotic pairs.

Why it matters

This study provides large population-based confirmation that genetic variation strongly influences Alzheimer disease risk and onset age across sexes, while establishing that nonshared environmental factors account for a substantial remaining fraction of risk.

Limits

The study is restricted to the Swedish population, potentially limiting generalizability to other demographic or ancestral groups. The abstract does not identify specific environmental exposures, specific genetic variants, or biomarker profiles.

Cited by