What’s new in DF12 endpoints

There were no systemic changes in Data Freeze (DF) 12 endpoints, only minor updates.

DF12 legacy samples

New DF12 biobanked research study cohort samples, genotyped with the FinnGen array, were delivered from the following cohorts and biobanks:

• ~7900 The Finland-United States Investigation of NIDDM Genetics (FUSION) study subjects from THL BB

• ~2200 Study subjects from asthma/COPD-cohort from Helsinki BB

• ~570 Finnish Health in Teens (Fin-Hit) study subjects from THL BB

• ~70 Migraine study subjects (THL BB)

New DF12 legacy genotypes

New legacy samples with previously generated genotypes from non-FinnGen arrays were received for DF12

• ~ 300 Finnish Health in Teens study subjects (Fin-Hit, THL BB)

Deleted endpoints

Endpoints removed based on being redundant to other endpoints:

SMOKING

C_FOLLICULAR_LYMPHOMA

C_HODGKIN_LYMPHOMA

C_LYMPHOMA

C_NONFOLLICULAR_LYMPHOMA

C_NONHODGKIN_NAS

C_OTHER_SPECIAL_TNK_LYMPHOMA

C_TNK_LYMPHOMA

DM1 and 2 complication endpoint deleted. Only the following DM complication endpoints exist in the DF12:

DM2_NEPHROPATHY

DM2_RETINOPATHY

DM2_NEUROPATHY

DM1_NEPHROPATHY

DM1_RETINOPATHY

DM1_NEUROPATHY

Deleted because of renaming:

AB1_GHLAMY_OTHER - for renaming purpose

New endpoints

New rare congenital disease endpoints:

E4_FABRY_KIDNEY

Q17_MARFAN

Q17_NEUROFIBROMATOSIS_2

Q17_NEUROFIBROMATOSIS_1

Q17_PEUTZ_JEGHERS

Q17_TUBEROUS_SCLEROSIS

Q17_VON_HIPPEL

C3_WILMS_TUMOR_EXALLC

Q17_HIRSPRUNG

Q17_ALPORT

E4_APECED

Q17_DIASTROFIC_DYSP

D3_ANGIOEDEMA_1

D3_ANGIOEDEMA_2

D3_ANGIOEDEMA_3

Q17_BICUSP_AORTIC_VALVE

Q17_MASTOCYTOSIS

Q17_NOONAN

Q17_OSTEOGEN_IMPERFECTA

New hematological disease endpoints:

C3_MYELOMA_MONOCLONAL

C3_CIRCULATING_LYMPHOID

C3_AML_MDS

Other:

DM_RETINOPATHY_STRICT

G6_NEURODEGENERATIVE

M13_EARLY_LUMBAR_PROLAPSE_OPER

M13_LUMBAR_PROLAPSE

Modified endpoints

Cancer endpoints

In DF12 we have added Hilmo based ICD codes to EXALLC cancer endpoints. In previous DFs these cancer endpoints were based on only the diagnoses from the Finnish Cancer Registry_._ Case definitions without EXALLC in the name have the original definition without the Hilmo based ICD codes. Previously EXALLC cancer endpoints were defined by control file, but now EXALLC endpoints are listed also in the case definition file.

Diabetic complication endpoints:

DM_NEPHROPATHY

DM_RETINOPATHY

DM_NEUROPATHY

Control definitions changed so that patients with diabetic complication are compared to diabetics without the complication

See endpoint changelog for more details.