Part IV: CASE STUDIES: Using Human Genome Epidemiology Information to Improve Health Chapter 22 Figures Text



Immunogenetic Factors in Chronic Beryllium Disease

Erin C. McCanlies, Michael E. Andrew, Ainsley Weston


 

Figure 22-1
Partial map of chromosome 6p21 showing relative positions of genes in the HLA-complex, listed from left to right, in positions relative to 300 to 1000. Ch. 6p23 is to the right of Chromosome 6p21.
Chromosome 6p21
genes DPB2 DPA2 DPB1 DPA1 DOA DMA DMB LMP2 TAP1 LMP7 TAP2 DOB DQB2 DQA2 DQB3 DQB1 DQA1 DRB1-9 DRA

 

HLA-DPB1 has been expanded to show the coding region (exons 1 – 6 and their relative size in base pairs). Some of the key amino acid substitution polymorphisms are indicated:
DPB1
1
(169)
2
(263)
3
(281)
4
(110)
5
(23)
6
(228)
5
8
9
11
69
84
85
86
87
92
E
V
Y
G
K
G
G
P
M
R
L
F
L
E
D
E
A
V
H
R
V
D

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Figure 22-2
Charted frequencies of HLA-DPB1E69 alleles by racial/ethnic groups.The x axis shows Allele frequencies of HLA-DPB1E69: Open bars represent population frequency of the HLA-DPB1*0200 allele family. Solid bars represent population frequency of the non-*02 family of E69-alleles.The y axis shows the distribution of these HLA-DPB1*02/non*02 allele frequencies by the following different ethnic/racial populations:
Different Ethnic/Racial Populations
Allele Frequency of HLA-DPβ1E69
Population frequency of the HLA-DPB1*0200 allele family
Population frequency of the non-*02 family of E69-alleles
28) Australian (Aboriginal-Central)
0.36
0.21
27) African (Cameroon/Bantu)
0.37
0.15
26) Asian/Oceanic ( Borneo)
0.02
0.43
25) Chinese (South)
0.26
0.18
24) Caucasian (Poland)
0.23
0.15
23) Caucasian (Czech)
0.23
0.12
22) Asian/Oceanic (Java)
0.11
0.24
21) Chinese (North)
0.21
0.13
20) Australian (Aboriginal-North)
0.20
0.14
19) Asian/Oceanic (New Guinea)
0.29
0.02
18) Amerindian (Embera)
0
0.30
17) African-American (Columbia Providencia)
0.10
0.19
16) African-American (NYC) [0.11/0.17]
0.11
0.17
15) Africa (Gabonese) ]
0.18
0.08
14) Africa (Nigeria)
0.09
0.14
13) Amerindian (Waunana)
0
0.23
12) Caucasian (Slovak)
0.15
0.07
11) Australian (Caucasian)
0.09
0.10
10) Africa (Liberia)
0.05
0.13
9) African-American (Cauca)
0.03
0.10
8) Amerindian (Cayapa) ]
0.04
0.06
7) Asian/Oceanic (New Guinea)
0.10
0
6) African-American (Choco)
0.03
0.06
5) Taiwanese
0.05
0.03
4) Asian/Oceanic (W. Samoa)
0.02
0.02
3) Amerindian (Coreguaje)
0.01
0
2) Asian/Oceanic (Trobriand, I)
0.01
0
1) Amerindian (Asario, Ijka, Ingano, Kogui, Nukak, Sikuani, Tule, Vaupes, Wayuu)
0
0

 

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Figure 22-3
Positive predictive value of HLA-DPβ1E69 testing for susceptibility to beryllium disease over a range of carrier frequencies for a workforce with a 5% prevalence of disease, and a workforce at high exposure risk (15% disease prevalence). This diagram shows curves representing positive predictive value of HLA-DP$1E69 testing for susceptibility to beryllium disease over a range of carrier frequencies. The x axis shows Population Frequency, HLA-DPβ1E69 , on a scale from 0 to 0.75, while the y axis shows Positive Predictive Value in percentage for two populations: one, a workforce with a 5% prevalence of disease (dotted line), and the other a workforce at high exposure risk (15% disease prevalence – solid line). The diagram shows a lower percentage of positive predictive value for the workforce with a 5% prevalence of disease, and a higher percentage of positive predictive value for the workforce with a 15% prevalence of disease (solid line).
Positive Predictive Value (%)
Population Frequency, HLA-DPβ1E69
0.25
0.50
0.75
Frequencies for a workforce with a 5% prevalence of disease
10%
8%
7%
Frequencies for a workforce at high exposure risk
(15% disease prevalence)
28%
20%
16%

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Page last reviewed: January 1, 2004 (archived document)