Table 1 Estimated prevalence (per million) in nine LGMD2s and published epidemiology estimates.

From: Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Subtype/gene

Population

Bayesian estimatora

Direct estimator

Published estimates

2A/CAPN3

AFR

27.0 (16.6, 39.1)

26.5

9.47 in northeastern Italy17

ASJ

0.02 (2.6e-5, 0.09)

0.01

6.0 in northern England18

EAS

13.6 (4.7, 25.6)

13.0

4300 in a Mexican village10

EUR

7.0 (5.4, 8.8)

7.0

576 in a province of Spain32

FIN

0.50 (0.12,1.1)

0.44

48 on Reunion Island33

NFE

9.4 (7.1, 11.8)

9.3

 

All

8.4 (6.8, 10.2)

8.3

 

2B/DYSF

AFR

34.2 (22.1, 48.2)

16.0

1.3 in northern England6

ASJ

0.06 (1.5e-4, 0.24)

0.04

 

EAS

14.7 (3.5, 31.2)

11.2

 

EUR

4.4 (2.8, 6.2)

3.3

 

FIN

0.2 (0.03, 0.6)

0.1

 

NFE

6.0 (3.7, 8.5)

4.6

 

All

7.5 (5.7, 9.4)

7.4

 

2C/SGCG

AFR

0.4 (0.05, 1.0)

0.4

1.3 in northern England18

ASJ

0.07 (1.7e-4, 0.3)

0.05

1.72 in northeastern Italy34

EAS

0.02 (5e-05, 0.08)

0.01

70 in Tunisia35

EUR

0.13 (0.04, 0.20)

0.12

48.8 in Moroccan population36

FIN

0.01 (3.2e-05, 0.05)

0.01

1.8 in Japan37

NFE

0.17 (0.05, 0.3)

0.16

 

All

0.12 (0.05, 0.20)

0.11

 

2D/SGCA

AFR

18.3 (10.1, 28.0)

18.0

0.7 in northeastern Italy17

ASJ

3.5 (1.0, 7.2)

3.3

3.02 in northeastern Italy34

EAS

0.3 (0.02, 0.7)

0.2

 

EUR

3.9 (3.0, 5.0)

3.9

 

FIN

5.9 (3.2, 9.1)

5.7

 

NFE

3.6 (2.6, 4.7)

3.5

 

All

3.4 (2.6, 4.2)

3.3

 

2E/SGCB

AFR

2.3 (0.4, 5.2)

2.1

0.7 in northeastern Italy17

ASJ

0.6 (0.03, 1.5)

0.5

0.86 in northeastern Italy35

EAS

0.14 (0.002, 0.4)

0.11

 

EUR

0.6 (0.3, 1)

0.6

 

FIN

0.07 (0.002, 0.2)

0.06

 

NFE

0.8 (0.4, 1.3)

0.8

 

All

0.80 (0.42, 1.26)

0.78

 

2F/SGCD

AFR

0.2 (0.002, 0.5)

0.12

Not available

ASJ

0 (0, 0)

0

 

EAS

0.9 (0.001, 3.7)

0.5

 

EUR

0.06 (0.004, 0.15)

0.05

 

FIN

0.6 (0.002, 2)

0.4

 

NFE

0.02 (0.004, 0.04)

0.02

 

All

0.07 (0.01, 0.15)

0.06

 

2G/TCAP

AFR

0.05 (4e-04, 0.2)

0.04

Not available

ASJ

0 (0, 0)

0

 

EAS

1.2 (0.4, 2.3)

1.1

 

EUR

0.02 (0.004, 0.03)

0.01

 

FIN

0.0001 (1.2e-07, 6e-4)

0

 

NFE

0.02 (0.006, 0.05)

0.02

 

All

0.040 (0.020, 0.063)

0.039

 

2I/FKRP

AFR

1.5 (0.2, 3.4)

1.4

4.3 in northeastern Italy17

ASJ

0.03 (4.3e-05, 0.1)

0.02

 

EAS

4.2 (1.5, 7.9)

4.1

 

EUR

8.4 (5.7, 11.4)

8.3

 

FIN

7.7 (1.8, 16.3)

7.1

 

NFE

8.5 (5.7, 11.7)

8.4

 

All

4.52 (3.20, 6.00)

4.48

 

2L/ANO5

AFR

4.8 (2.2, 8)

4.6

2.7 in northern England8

ASJ

3.0 (0.8, 6.3)

2.9

20 in Finland38

EAS

0.5 (0.09, 1.1)

0.5

10 in Denmark39

EUR

28.5 (24, 33.2)

28.3

 

FIN

34.4 (35.8, 25.2)

35.3

 

NFE

27.3 (22.4, 32.5)

27.1

 

All

17.6 (15.2, 20.2)

17.5

 
  1. The table shows the comparison results between prevalence of LGMD2 subtypes estimated by our method (“Bayesian estimator”), by using the allele frequencies provided in gnomAD directly (“Direct estimator”) and from epidemiology studies. It also shows population stratification estimates of LGMD2s prevalence.
  2. AFR African/African American,All for mixed population in gnomAD, ASJ Ashkenazi Jewish,CI confidence interval, EAS East Asian, EUR European, FIN Finnish, NFE non-Finnish European.
  3. a95% confidence intervals.
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