Sensitive

Age-related macular degeneration

CFH · rs1061170

Where this position leads

Condition: Age-Related Macular Degeneration

Supplement: AREDS2 Eye Formula

rs1061170 Condition: Age-Related Macular Degeneration Age-Related Macular Degeneration Condition Supplement: AREDS2 Eye Formula AREDS2 Eye Formula Supplement rs1061170 rs1061170 CFH

What each result means

C/C Carries two copies of the C (His402) risk allele. In the discovery study, this genotype carried about 5.93 times the relative risk of age-related macular degeneration (95% CI 4.33-8.02) compared with T/T — the single strongest common-variant effect size in this condition's genetics.
T/C Carries one copy of the C (His402) risk allele. In the discovery study, this genotype carried about 2.44 times the relative risk of age-related macular degeneration (95% CI 2.08-2.83) compared with T/T.
T/T No copy of the C (His402) risk allele — the baseline genotype in the discovery study.
Talk to an eye doctor about age-related macular degeneration risk and screening rather than acting on genotype alone — regular dilated eye exams are how this is actually monitored.
Source

In the news

2021-07-29 · Hospital Clínic de Barcelona & IDIBAPS (Dr. Blanca Molins, Ocular Inflammation research group)

Complement Factor H (CFH) may be involved in age-related macular degeneration (AMD)

Barcelona researchers described how the CFH Y402H risk variant (rs1061170, profiled on this site) changes how well complement factor H regulates inflammation and oxidative stress in the retina, and how a separate protein, FHR4 (made from the related CFHR4 gene), can compete with CFH and blunt its protective effect -- a mechanistic explanation for why this one variant carries such a large share of AMD risk. This is an older finding (2021), included here because the date is accurate and the mechanism it describes is still the current explanation, not because it is recent.

Questions about rs1061170

What is rs1061170?

rs1061170 is a single position in the genome, in or near the CFH gene. Published research associates it with age-related macular degeneration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1061170 linked to?

On MyGeneLog this position is linked to Age-Related Macular Degeneration. The research behind each link, and its sources, are set out on that condition page.

Does having rs1061170 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 rs1061170 come from?

Zareparsi et al. 2005, American Journal of Human Genetics — strong association of the Y402H variant in complement factor H with AMD. PMID 15895326. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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