Gut microbiome in a Spanish CACD family cohort, case-control
62 faecal samples from a Spanish family: 33 from carriers of the PRPH2 Arg195Leu mutation causing central areolar choroidal dystrophy and 24 from non-carrier household members, analysed by shotgun metagenomics in a case-control design. machine-written summary
62 samples · 62 runs · ES · Adult · 2026 · 0.46 Gbp / sample
Checked this project's papers and archive records yourself? Mark it human-verified.
what each source gave
| ✓ Sequence archive | 600 sample values (age, collection date, country, health condition, health condition detail, latitude, location region, longitude) |
| – Abstract / description | no abstract or project description |
| – Full text | no open-access full text linked |
| – Supplementary tables | no supplementary tables available (or none open access) |
| – External resources | not covered by the external resources we ingest |
| – User contribution | nothing uploaded yet |
| – Human verified | not yet checked by a person · I checked this project — verify it |
families — not resolvedhouseholds — not resolved
62 samples from one large Spanish family: 33 PRPH2 mutation carriers, 24 non-carrier household members.
No Sandpiper profile for this project's samples yet.
| field | samples | coverage | R1 | R2 | R3 | R4 |
|---|---|---|---|---|---|---|
| age_category | 58 | 94% | ||||
| country | 62 | 100% | 62 | |||
| health_condition | 58 | 94% | 58 | |||
| subject_id | 58 | 94% | 58 | |||
| collection_date | 62 | 100% | 62 | |||
| detailed_location | 62 | 100% | ||||
| latitude | 62 | 100% | 62 | |||
| location_region | 62 | 100% | 62 | |||
| longitude | 62 | 100% | 62 | |||
| age_at_collection_days | 58 | 94% | 58 | |||
| health_condition_detail | 58 | 94% | 58 | |||
| sex | 58 | 94% | 58 |
Archive description
Central areolar choroidal dystrophy (CACD) is a rare monogenic hereditary retinal dystrophy characterised by progressive retinal pigment epithelium and choriocapillaris atrophy, photoreceptor loss, oxidative stress, and chronic inflammation. Emerging evidence suggests that the gut microbiota can modulate systemic inflammatory responses and may influence ocular health through the gut-eye axis. However, the contribution of the gut microbiome to CACD remains unexplored. In this pilot study, we investigated the gut microbiome composition and functional potential of members of a large Spanish family carrying the PRPH2 Arg195Leu mutation associated with CACD. Faecal samples from 33 mutation carriers and 24 non-carrier household members were analysed using whole-metagenome shotgun sequencing.
How this project entered the registry
Classified as human gut / stool shotgun DNA metagenome of adult and elderly by sonnet_x2 with confidence 0.68. Assay shotgun_dna.
- host study.description · “Faecal samples from 33 mutation carriers”
- body site run.scientific_name · “human feces metagenome”
- life stage study.description · “members of a large Spanish family”
- life stage sample.attr.host_age · “65 (n=20/62)”
Evidence examples (one per field × route)
| sample | field | value | route | conf. | source | quote |
|---|---|---|---|---|---|---|
| SAMEA122678282 | age_at_collection_days | 21177.0 | R1 | 0.85 | sample.attr.host_age | 58 |
| SAMEA122678278 | collection_date | 2022-11-01 | R1 | 0.90 | biosample.attribute:collection_date | 2022-11-01 |
| SAMEA122678278 | country | ES | R1 | 0.90 | sample.attr.geographic_location_country_and_or_sea | Spain |
| SAMEA122678282 | health_condition | healthy_control | R1 | 0.90 | biosample_attr | healthy |
| SAMEA122678282 | health_condition_detail | healthy | R1 | 0.90 | sample.attr.host_disease_status | healthy |
| SAMEA122678278 | latitude | 43.4636 | R1 | 0.90 | biosample.attribute:geographic_location_latitude+geographic_location_longitude | 43.4636 -3.8226 |
| SAMEA122678278 | location_region | Cantabria | R1 | 0.60 | biosample.attribute:geographic_location_latitude+geographic_location_longitude | 43.4636 -3.8226 |
| SAMEA122678278 | longitude | -3.8226 | R1 | 0.90 | biosample.attribute:geographic_location_latitude+geographic_location_longitude | 43.4636 -3.8226 |
| SAMEA122678282 | sex | male | R1 | 0.90 | sample.attr.host_sex | male |
| SAMEA122678282 | subject_id | S1 | R1 | 0.85 | biosample.attribute:DESCRIPTION | Sample from a healthy participant number S1 |
Sequencing
62 runs over 62 samples · mean 0.48 Gbp per run (median 0.46 Gbp, total 30.05 Gbp; 62 runs with a base count) · layout PAIRED 62 · platform ILLUMINA 62 · models NextSeq 2000 (62) · 0% of runs with a Sandpiper profile · first public 2026-05-18
Authors (0)
No author record.
Downloads
PRJEB112132.csv.gz (2.8 KB) · parquet (72.9 KB) — all 62 samples, every field with route and confidence · PRJEB112132_determinations.csv.gz (4.8 KB) — 600 evidence rows