IMSGC Data Holdings Survey – International Multiple Sclerosis Genetics Consortium

This survey establishes what samples and phenotype data exist across IMSGC centres, to plan future joint studies. It takes 5 to 15 minutes depending on your holdings; questions only appear where relevant to what you tick. Responses can be updated at any time by reopening your centre link.

A. Your centre

Your link should have pre-selected your centre. Please confirm or correct it.

Centre *

Centre / institution name *

Name of person completing this survey *

Email address *

B. Your centre's contributions on record

Select your centre above to see its contributions on record.

Compiled from the published IMSGC supplementary tables (Science 2019; Cell 2018; Nature 2023). Country-level rows pool all centres from your country.

Do these records look broadly accurate, as far as you can judge? *YesNeeds correctionUnsure

Corrections, or your centre's own share of any country-pooled row, if you know it (optional)

C. Genetic data and samples beyond the records above

Count each individual once, in the first tier that applies. Tiers run from data-in-hand to recruitable. Approximate counts are fine. Enter 0 for none; leave a count blank only if unknown.

Tier 1. Does your centre hold genetic data (array, WES or WGS) not previously shared with the IMSGC? *Count new data even if the individuals were part of earlier contributions, e.g. WGS performed on previously contributed cases.YesNoUnsure

Data types held

Genotyping arrayWhole-exome sequencingWhole-genome sequencing

Main platform(s), e.g. GSA, Illumina 30x WGS

MS cases with such dataApproximate numbers are fine.

Controls with such dataApproximate numbers are fine.

Tier 2. Individuals with a DNA or blood sample available, but no genetic data yet? *YesNoUnsure

MS cases with a sample (DNA or blood)Approximate numbers are fine.

Controls with a sample (DNA or blood)Approximate numbers are fine.

Tier 3. MS cases with no current sample, but accessible to your team for sampling? *YesNoUnsure

MS cases you could newly sampleApproximate numbers are fine.

Controls you could newly recruit (not counted in the tiers above)Approximate numbers are fine.

D. Severity GWAS readiness

Here, include cases already genotyped in ANY prior effort, including those in the records above, provided they were not part of the 2023 severity GWAS. Enter 0 for none; leave blank only if unknown. If you are unsure about overlap with the 2023 study, answer Yes and mention it in the final comments.

Do you have MS cases with at least one EDSS who were NOT included in the 2023 severity GWAS? *YesNoUnsure

(a) Already genotyped, with EDSS — no new genotyping neededApproximate numbers are fine.

(b) Sample in hand (DNA or blood), with EDSS — needs genotypingApproximate numbers are fine.

Of the cases in (b) and (c), if any: for how many could you cover genotyping (about US$50/sample) from local funding?Approximate numbers are fine. Leave blank if unknown at this stage.

E. Phenotypes

Note: the scope changes here.

These questions concern ALL MS cases at your centre. Tick every phenotype available for at least some cases. For each one you tick, two counts appear: cases who already have genetic data (from any effort, IMSGC or local), and cases without genetic data yet but with a sample available or reachable for sampling. Approximate numbers are fine; enter 0 for none, leave blank only if unknown.

Age at onset — with genetic data

— without genetic data yet

Current disease course (RRMS / SPMS / PPMS) — with genetic data

— without genetic data yet

Disease course at onset (relapsing vs progressive) — with genetic data

— without genetic data yet

Date of SPMS conversion (or disease duration at conversion; for PPMS, age at onset) — with genetic data

— without genetic data yet

OCB status — with genetic data

— without genetic data yet

IgG index — with genetic data

— without genetic data yet

Kappa free light chains — with genetic data

— without genetic data yet

Blood NfL — with genetic data

— without genetic data yet

Blood GFAP — with genetic data

— without genetic data yet

MRI — with genetic data

— without genetic data yet

EDSS at 2 or more timepoints — with genetic data

— without genetic data yet

Time to EDSS 6 (event reached) — with genetic data

— without genetic data yet

DMT history — with genetic data

— without genetic data yet

MSIS-29 — with genetic data

— without genetic data yet

SDMT — with genetic data

— without genetic data yet

EQ-5D — with genetic data

— without genetic data yet

9-hole peg test — with genetic data

— without genetic data yet

Timed 25-foot walk — with genetic data

— without genetic data yet

Fatigue Severity Scale (FSS) — with genetic data

— without genetic data yet

MFIS — with genetic data

— without genetic data yet

OCT — with genetic data

— without genetic data yet

Median follow-up duration for cases with longitudinal EDSS

Median number of EDSS assessments per case

F. Ancestry composition

To plan ancestry-inclusive studies. Applies to all samples.

Approximate proportion of NON-European-ancestry samples

G. Data sharing and capture

What could your centre share for a joint study? *Individual-level data under a data transfer agreementSummary statistics only (analysis run locally, aggregate results shared)Mixed (varies by cohort or dataset)Unknown

Briefly, what varies?

How are your clinical phenotypes captured? *Prospective structured assessmentRegistryRetrospective chart reviewMixed

Anything else we should know? (optional)