Pemphigus

L12_PEMPHIGUS

pemphigus: a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — L10 Cause of death: ICD-10 — L10 2 out of 7 registries used, show all original rules.	219
4. Check minimum number of events None	219
5. Include endpoints L12_PEMPHIGUS_VULG L12_PEMHPIGUS_VEGET L12_PEMPHIGUS_FOL L12_PEMPHIGUS_BRAZ L12_PEMPHIGUS_ERYT L12_PEMPHIGUS_DRUG L12_PEMPHIGUS_NAS	243
6. Filter based on genotype QC (FinnGen only)	243

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L10-L14
Name in latin: Pemphigus

NAME	L12_PEMPHIGUS
CONTROL_EXCLUDE	L12_BULLOUS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	L12_PEMPHIGUS_VULG\|L12_PEMHPIGUS_VEGET\|L12_PEMPHIGUS_FOL\|L12_PEMPHIGUS_BRAZ\|L12_PEMPHIGUS_ERYT\|L12_PEMPHIGUS_DRUG\|L12_PEMPHIGUS_NAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L10
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L10
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Pemphigus based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2071	1164	893
Only index persons	1659	955	704
Unadjusted period prevalence (%)
Whole population	0.03	0.03	0.02
Only index persons	0.03	0.04	0.03
Median age at first event (years)
Whole population	60.97	62.71	58.53
Only index persons	58.01	59.23	56.35

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	243	131	112
Unadjusted period prevalence (%)	0.05	0.04	0.05
Median age at first event (years)	57.22	53.28	61.83

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
217: Matched controls
2170

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

L10.0

ICD-10 Finland

Pemphigus vulgaris

+∞

74.3

L10.9

ICD-10 Finland

Pemphigus, unspecified

+∞

69.6

L10.2

ICD-10 Finland

Pemphigus foliaceus

+∞

32.1

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

8.8

29.5

109

L10.8

ICD-10 Finland

Other pemphigus

281.0

25.2

L10.4

ICD-10 Finland

Pemphigus erythematosus

+∞

24.4

L04AX01

ATC

azathioprine; systemic

11.6

22.1

L12.0

ICD-10 Finland

Bullous pemphigoid

+∞

21.2

135

Kela drug reimbursment

Pemphigus

+∞

20.1

H02AB06

ATC

prednisolone; systemic

3.9

19.9

143

720

D07AD01

ATC

clobetasol; topical

4.9

18.9

196

D07AC01

ATC

betamethasone; topical

3.8

18.9

112

471

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

5.4

17.7

137

J04BA02

ATC

dapsone; oral

48.8

15.3

L10.1

ICD-10 Finland

Pemphigus vegetans

+∞

14.7

69400

ICD-8 Finland

Pemphigus, Vulgaris, vegetans, foliaceus

+∞

13.7

L30.9

ICD-10 Finland

Dermatitis, unspecified

3.9

13.5

201

D07AB08

ATC

desonide; topical

4.2

10.5

113

D07AC13

ATC

mometasone; topical

2.7

10.0

393

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

2.6

10.0

496

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

3.7

8.4

113

E0000UV

ATC

2.4

8.2

568

E000001

ATC

2.8

8.1

251

D07AB02

ATC

hydrocortisone butyrate; topical

2.5

8.0

393

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.3

7.8

110

676

L10.3

ICD-10 Finland

Brazilian pemphigus [fogo selvagem]

+∞

7.3

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.9

7.3

177

L40.0

ICD-10 Finland

Psoriasis vulgaris

5.3

7.2

L04AA06

ATC

mycophenolic acid; systemic

9.3

7.2

R21

ICD-10 Finland

Rash and other nonspecific skin eruption

5.2

7.1

D07CC01

ATC

betamethasone and antibiotics; topical

3.0

6.8

157

WZB00

NOMESCO Finland

Telephone receipt or other advice

2.4

6.7

359

D07XC01

ATC

betamethasone, combinations; topical

3.0

6.5

154

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

2.9

6.4

158

SBA00

NOMESCO Finland

Microbiological examinations

7.4

6.3

L12.9

ICD-10 Finland

Pemphigoid, unspecified

+∞

6.3

WZC10

NOMESCO Finland

Extensive specialist consultion with written report

5.2

6.2

L30.0

ICD-10 Finland

Nummular dermatitis

5.5

6.2

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

4.0

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint L12_PEMPHIGUS and mortality.

Females

Parameter	HR [95% CI]	p-value
L12_PEMPHIGUS	1.626 [1.33, 1.99]	< 0.001
Birth year	0.998 [0.99, 1.01]	0.595

During the follow-up period (1.1.1998 — 31.12.2019), 277 out of 914 females with L12_PEMPHIGUS died.

Males

Parameter	HR [95% CI]	p-value
L12_PEMPHIGUS	1.956 [1.45, 2.64]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.004

During the follow-up period (1.1.1998 — 31.12.2019), 244 out of 706 males with L12_PEMPHIGUS died.

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIGUS.

N-year risk	Females	Males
1	0.18%	0.394%
5	1.082%	2.301%
10	2.535%	5.646%
15	4.777%	10.27%
20	8.552%	17.108%

Relationships between endpoints

↥

Index endpoint: L12_PEMPHIGUS – Pemphigus

GWS hits: 1

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Pemphigus

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints