9LAFAYETTE
COLLEGE
Abstract
Background: Patients with renal cell carcinoma (RCC), the most common type of kidney cancer
(85% cases), have the lowest survival in the U.S. compared to all other urologic cancers. The
most frequent RCC subtype is clear cell RCC (ccRCC, 75% cases) African American (AA)
CCRCC patients have worse survival than European Americans (EAS). There are environmental
lifestyle, and biological determinants of the racial disparity, with the tumor biology being the least
understood. Genomic factors, like loss of heterozygosity (LOH), have been associated with poor
cancer survival. LOH cccurs when a heterozygous cell losas one of its alleles at a specific locus,
which increases cancer susceptibility One LOH mechanism, copy number loss (CNL)-LOM
occurs when an allele is deleted or a portion of an allele is lost at a locus
Hypothesis: CNL-LOH at aggressive tumor biology loci are population-specific
Study Design: Discovery (TCGA) cohort data was downloaded, followed by clinical demographic
characterization (n = 55 AAs n=458 EAS). Affymebix Genotyping Console 4.0 was used to
generate Genome-Wide Human SNP Array 6.0 data. Partek Genomics Suite 7.0 LOH Workflow
was used to perform paired LOH analysis (Threshold = 0.1). String v11.5 was used to determine
known and predicted functional protein-protein interactions (PPI) Gene expression data in
cBioPortal was downloaded to compare expression of scramblase genes by race
Results: AAs had significant CNL-LOH on chromosomes 1, 11, and X, which was not observed
in EAs. Both populations had significant CNL-LOH on chromosome 3. Further region-specific
analyses of chromosome 3 showed that AAs had significant CNL-LOH on the 3q region, whille
EAs exhibited significant CNL-LOH on 3p Collectively, 306 penes in 10 AA-enriched
chromosome regions were impacted by CNL-LOH. Significant AA-PPI enrichment
(P= 1.08-16) revealed greater biological inte
interactions than expected and molecular functions in
scramblase activity (P = 0.0382) Scramblase 5 was found to significantly interact with DIPKZA
AAs had significantly lower expression of PLSCR4 and PLSCRS (P = 5.176-10, P= 2.130-10)
Loss of heterozygosity in renal cell carcinoma from African American
and European American patients
Alex Bart and Khadijah A. Mitchell, PhD
Lafayette College, Department of Biology, Easton, PA
Conclusion: Population specific CNL-LOH at the global and chromosomal levels was identified
in AAs with CCRCC
Discussion: Scramblases are proapoptotic proteins and suspected tumor suppressors. We
speculate CNL-LOH of scramblase genes can lead to loss of protein function, less apoptosis,
greater disease progression, and decreased survival in AAS
Future Directions: Future work will explore the association between coRCC patient survival by
race, CNL-LOH status, and scramblase expression.
Background
Figure 1. African American (AA) kidney cancer patients have lower
five-year survival than European American (EA) patients.
16
83.3%
14.6%
Figure 2. Renal cell carcinoma (RCC) is the most common type of kidney
cancer (-85% of cases), consisting of three subtypes.
MAX
Figure 3. AA RCC patients have worse survival than
EAs for each RCC subtype
Aims & Study Design
Figure 4. Copy Number Loss-Loss of Heterozygosity (CNL-LOH)
occurs either by simple deletion of one allele or
deletion of a portion of an allele.
1. Imported
1113 CEL fies
LOM
Hypothesis and Specific Alms
Hypothesis CNL LOH at aggressive tumor biology local are
population-specific
1: Analyze CNL-LOM in AA and EA clear cell RCC (CCROC)
1. Imponied
Denes im Interaction (PP) analysis based on
Study Design
Affymetrix Genotyping Canscle Workflow
1042 C
O
Age (years)
Mean (SD)
Female
Male
Stage (5)
1
2. QCod
1042 CEL fe
in bounds
Dena ithat is in bounds passed the OC cara
Crecia 1: Smindt varaa by sa Requences
Crema 2. Premove earth and sems with mr ara
Copy number loss due to a portion d
an avia being lest
[I
IV
Ucknown
Grade (%) +
Partek Genomic Suite LOH Workflow
2 OCed 1047
OP les
X Perfomed
gmotyping sing dre
Birdswd v2 algnet
J
4
Unknown
Vital Status (%) ^ &
Dead
Alive
Unknown
Fisher’s exact lest, Chi square lest, #Ilest
unknown patients removed from significance testing
3. Performed paired
LOH analysis on 910
Only tumor and normal pairs were included
(n=43 AA and 406 [A paire)
Results
Table 1. Clinical and demographic information of ccRCC patients
TCOA Discovery Compr
5 (9)
6 (11)
1(0)
AA
– 04
25 (46)
21 (38)
2 (4)
11 (20)
44 (30)
00
aported
1842 C-P Sim
Clear Cell RCC
AA (@-55) EA(-4)
und and
4. Vinutlaed
LOH results
$9.9 (10.5) 60.6 (122)
37-81
26-90
STRING
153 (33)
305 (67)
217 (48)
49 (11)
112 (24)
78 (17)
20
458
10 (2)
18X (41)
181 (40)
74 (16)
5(0)
199 (15)
30
>
0.62
6.876
0.015
KBZJ
Main Finding
There were significant differences by sex, stage, grade and vital status
In the TCGA Discovery Cohort
AA chr with significant CNL-LOM
Results
Tabla 2. Chromosomes with significant CNL-LOH
3p25.3
3p24.1
2p221
p21.33
3:21.2
2p13
3013.32
3:21.3
34272 2
3:24
11p11.2
11p11.17
X011.22
X=25
AA Only
18:33
11p11.2
11p11.12
Xp11.22
Jp13
3q13.32
3021.3
3222
3424
3:213
3022.2
3024
AA only
Main Findings
AAs had significant CNL-LOH an Chromosomes 1, 11, and X,
but EAs did not
Both AAS and EAs had significant CNL-LOH on chromosome 3.
CNL-LOH unique to AAs
81
7
53
13
Results
Figure 5. Venn diagram of significant CNL-LOH
on chromosome 3 cytobands
21
3
532
10
23
431
30241
371.33
3212
EA er with and CNL-LOM
0
0
0
10
0
3
0
Table 3. 306 candidate genes impacted by CNL-LOM
across 10 cytobands
2
0
(A only
4
bay
NO
1341
Genes Tumor Suppressor Genes Oncogenes
37
1
2
0
10
1
MOLL
3p28.2
3p28.1
621
3142
YO
3p25.2
3p25.1
3p24.2
3242
3:24.1
3222
22.1
3p21.31
3021.2
3p21.1
3143
Op 14.2
3p 14.1
CAL-LOH unique to AAS
0
1
5
0
O
3
71
7
12
18
8
43
10
Main Findings
AAs mostly had significant CNL-LOH on the 3g region, while EAS
exhibited significant CNL-LOH on 3p
CNL-LOH impacted more tumor suppressor genes than oncogenes at
11p11.2, 3p13, and 3424.
Results
FASERS
Figure 6. Scramblase protein-protein interactions
P
PLACES
11
Figure 7. Expression of scramblase genes by race
Main Findings
Four scramblases, tumor suppressor proteins, were functionaly envichet
Scramblase 5 significantly interacted with DIPK2A
AAs had significantly lower expression of PLSCR4 and PLSCRS.
Conclusions & Discussion
Conclusions
•AAs had significant CNL-LOH on chromosomes 1, 11, and X
• Both AAS and EAs had significant CNL-LOH on chromosome 1
with AAs having significant CNL-LOH on the 3q region while EA
had significant CNL-LOH con the 3p region.
• Of 306 genes impacted by CNL-LOH, scramblase proteins encoda
by PLSCR genes were functionally enriched
AAs had significantly lower expression of PLSCR4 and PLSCRS
than EAS
Discussion
•AA scramblase tumor suppressor genes are more impacted by
CNL-LOH in comparison to EA CORCC patients. Thus, CNE LOH
scramblase genes in AAs la expected to lead to loss of protein
function decreased apoptosis, greater disease progression, and
worse survival.
Future Directions
Validate these findings in the CHTN Gesinger comert
Perform survival analysis based on CNL-LOH status.
Funding Source:
Lafayette College
Department of Biology9
LAFAYETTE
COLLEGE
Abstract
Background: Patients with renal cell carcinoma (RCC), the most common type of kidney cancer
(85% cases), have the lowest survival in the U.S. compared to all other urologic cancers. The
most frequent RCC subtype is clear cell RCC (ccRCC, 75% cases). African American (AA)
CCRCC patients have worse survival than European Americans (EAS). There are environmental,
Mestyle, and biological determinants of the racial disparity, with the tumor biology being the least
understood. Genomic factors, like loss of heterozygosity (LOH), have been associated with poor
cancer survival, LOH occurs when a heterozygous cell loses one of its alleles at a specific locus,
which increases cancer susceptibility. One LOH mechanism, copy number loss (CNL)-LOH.
occurs when an allele is deleted or a portion of an allele is lost at a locus.
Hypothesis: CNL-LOH at aggressive tumor biology loci are population-specific.
Study Design: Discovery (TCGA) cohort data was downloaded, followed by clinical demographic
characterization (n = 55 AAs, n = 458 EAs). Affymetrix Genotyping Console 4.0 was used to
generate Genome-Wide Human SNP Array 6.0 data. Partek Genomics Suite 7.0 LOH Workflow
was used to perform paired LOH analysia (Threshold = 0.1). String v11.5 was used to determine
known and predicted functional protein-protein interactions (PPI). Gene expression data in
cBioPortal was downloaded to compare expression of scramblase genes by race.
Results: AAs had significant CNL-LOH on chromosomes 1, 11, and X, which was not observed
in EAS. Both populations had significant CNL-LOH on chromosome 3. Further region-specific
analyses of chromosome 3 showed that AAs had significant CNL-LOH on the 3q region, while
EAs exhibited significant CNL-LOH on 3p. Collectively, 306 genes in 10 AA-enriched
chromosome regions were impacted by CNL-LOH. Significant AA-PPI enrichment
(P= 1.00-16) revealed greater biological interactions than expected and molecular functions in
scramblase activity (P=0.0382). Scramblase 5 was found to significantly interact with DIPK2A
AAs had significantly lower expression of PLSCR4 and PLSCRS (P= 5.176-10, P=2.13e-10).
Conclusion: Population-specific CNL-LOH at the global and chromosomal levels was identified
in AAs with ccRCC.
Discussion: Scramblases are proapoptotic proteins and suspected tumor suppressors. We
speculate CNL-LOH of scramblase genes can lead to loss of protein function, less apoptosis,
greater disease progression, and decreased survival in AAs.
Future Directions: Future work will explore the association between ccRCC patient survival by
race, CNL-LOH status, and scramblase expression.
Background
Figure 1. African American (AA) kidney cancer patients have lower
five-year survival than European American (EA) patients.
91%
93.3%
74.7%
EA
Loss of heterozygosity in renal cell carcinoma from African American
and European American patients
Alex Bart and Khadijah A. Mitchell, PhD
Lafayette College, Department of Biology, Easton, PA
14.6%
Race
National Cancer Indu, SEER Explorer, 2022 Lanmone & Physicpedia, 220
CI
AA RCC
Figure 2. Renal cell carcinoma (RCC) is the most common type of kidney
cancer (-85% of cases), consisting of three subtypes
4040
Figure 3. AA RCC patients have worse survival than
EAs for each RCC subtype.
(x) penyaing angrepny weat-s
t
Ana M, Ungir Olgs 2020 ongo C American Cancer Soci 213
40
Aims & Study Design
Figure 4. Copy Number Loss-Loss of Heterozygosity (CNL-LOH)
occurs either by simple deletion of one allele or
deletion of a portion of an allele.
Copy number loss due to allele deletion
LOM
Hypothesis and Specific Aims
Hypothesis: CNL-LOH at aggressive tumor biology lodi are
population-specific.
Alm 1: Analyze CNL-LOH in AA and EA clear cell RCC (ccRCC)
patients from the TCGA Discovery Cohort
1. Imported
1113 CEL Mies
1. Imported
1042 CHP files
Alm 2: Perform Protein-Protein Interaction (PPI) analysis based on
AA-specific genes impacted by CNL-LOH.
Sex (6)
Female
Male
Study Design
Affymetrix Genotyping Consols Workflow
Age (years)#
Mean (SD)
2. Oced
Stage (%)+
I
11
FIX
Copy number loss dun to a portion of
an allele being lest
1042 CEL
IV
Unknown
Grade (%) +
in Bounds
Data that is in-bounds passed the QC antena
Criteria 1: Select variants by allele frequencies
Crena 2. Remove variants and samples with missing data
Partek Genomic Suite LOH Workflow
2. QCed 1042
CHP files
LOW
3. Performed
genotyping uning the
Birdneed v2 algorithyn
2
3
4
Unknown
Vital Status (%) ^ &
Dead
Alive
Unknown
^ Fisher’s exact test,+ Chi square test, #lest
& unknown patients removed from significance testing
Only tumor and normal pairs were included
(n=4 AA and 400 EA pairs)
3. Perfomed pared
LOH analysis on 910
CHP Eles
Results
Table 1. Clinical and demographic information of ccRCC patients
28 (51)
27 (49)
TCGA Discovery Cab
38 (69)
5 (9)
6 (11)
5 (9)
10)
25 (46)
21 (38)
2 (4)
3 (5)
AA
A-55
11 (20)
44 (80)
0 (0)
4. Generated and
exported
1042 CHP les
Clear Cell RCC
AA(-55) EA(n-458)
& Visualized
LOH results
Version 11.5
59.9 (10.5) 60.6 (122)
37-81
26-90
STRING
153 (33)
305 (67)
n=459
217 (48)
49 (11)
112 (24)
78 (17)
2 (0)
10 (2)
188 (41)
181 (40)
74 (16)
5 (1)
159 (35)
295 (65)
3 (0)
P
0.62
2016
0.016
6033
Main Finding
There were significant differences by sex, stage, grade, and vital status
in the TCGA Discovery Cohort.
AA chr with significant CNL-LOH
1p33
3p26.3
3p25.3
3p24.1
3p22.1
3p21.33
3p21.2
3p13
3q13.32
3021.3
30222
3024
1a11.2
Results
Table 2. Chromosomes with significant CNL-LOH
11p11.12
Xp11.22
Xc25
AA Only
1p33
11p112
11p11.12
Xp11.22
3p13
3013.32
3p13
3q13.32
3:21.3
3422.2
3024
AA only
3421.3
39222
Main Findings
AAs had significant CNL-LOH on Chromosomes 1, 11, and X,
but EAs did not.
Both AAS and EAs had significant CNL-LOH on chromosome 3.
Results
Figure 5. Venn diagram of significant CNL-LOH
on chromosome 3 cytobands
LA only
37
81
CNL-LOH unique to AAS
7
53
13
21
9
52
10
AA and EA
23
3p253
3241
3p23.1
371.33
EA chr with significant CNL-LOH
3p20.3
3p20.2
3p25.1
0
8
0
10
0
3
0
2
0
9211
Table 3. 306 candidate genes impacted by CNL-LOH
across 10 cytobands
#Genes Tumor Suppressor Genes Oncogenes
1
2
0
TO
1
4
1203
2243
421
$223
16211
1141
WILL
3p25.3
3p25.2
3p25.1
3p24.3
3p24.2
3p24.1
3p23
3p22.3
3p22.2
3p22.1
3021.33
3:21.32
3:21.31
3p21.2
3p21.1
3p14.3
3p14.2
3p14.1
CNL-LOH unique to AAs
0
0
1
5
0
TE
“”
INNBIND
Other
35
71
7
33
12
13
8
43
10
19
Main Findings
AAs mostly had significant CNL-LOH on the 3q region, while EAS
exhibited significant CNL-LOH on 3p.
CNL-LOH impacted more tumor suppressor genes than oncogenes al
11p11.2, 3p13, and 3024
PLECKI
Results
Figure 6. Scramblase protein-protein interactions
57
PLECRE
Figure 7. Expression of scramblase genes by race
117
TA
PLSCRA
3
PUSCES
Main Findings
Four scramblases, tumor suppressor proteins, were functionally enriched
Scramblase 5 significantly interacted with DIPK2A
AAs had significantly lower expression of PLSCR4 and PLSCR5.
LA
-2
Conclusions & Discussion
ONTR/Gwainger Valictos Cohort
Conclusions
• AAs had significant CNL-LOH on chromosomes 1, 11, and X
• Both AAS and EAs had significant CNL-LOH on chromosome 3
with AAs having significant CNL-LOH on the 3q region while Es
had significant CNL-LOH on the 3p region.
•
Of 306 genes impacted by CNL-LOH, scramblase proteins encod
by PLSCR genes were functionally enriched.
• AAs had significantly lower expression of PLSCR4 and PLSCRI
than EAs.
Discussion
• AA scramblase tumor suppressor genes are more impacted by
CNL-LOH in comparison to EA coRCC patients, Thus, CNL-LOH
scramblase genes in AAs is expected to lead to loss of protein
function, decreased apoptosis, greater disease progression, and
worse survival.
Future Directions
• Validate these findings in the CHTN/Geisinger cohort
• Perform survival analysis based on CNL-LOH status.
Funding Source:
Lafayette College
Department of Biology9
LAFAYETTE
COLLEGE
Abstract
Background: Patients with renal cell carcinoma (RCC), the most common type of kidney cancer
(85% cases), have the lowest survival in the U.S. compared to all other urologic cancera. The
most frequent RCC subtype is clear cell RCC (ccRCC, 75% cases). African American (AA)
CCRCC patients have worse survival than European Americans (EAS). There are environmental,
lifestyle, and biological determinants of the racial disparity, with the tumor biology being the least
understood. Genomic factors, like loss of heterozygosity (LOH), have been associated with poor
cancer survival LOH occurs when a heterozygous cell loses one of its alleles at a specific locus,
which increases cancer susceptibility. One LOH mechanism, copy number loss (CNL)-LOH.
occurs when an allele is deleted or a portion of an allele is lost at a locus.
Hypothesis: CNL-LOH at aggressive tumor biology loci are population-specific.
Study Design: Discovery (TCGA) cohort data was downloaded, followed by clinical demographic
characterization (n = 55 AAs, n = 453 EAs). Affymetrix Genotyping Console 4.0 was used to
generate Genome-Wide Human SNP Array 6.0 data. Partek Genomics Suite 7.0 LOH Workflow
was used to perform paired LOH analyais (Threshold 0.1). String v11.5 was used to determine
known and predicted functional protein-protein interactions (PPI). Gene expression data in
cBioPortal was downloaded to compare expression of scramblase genes by race.
Results: AAs had significant CNL-LOH on chromosomes 1, 11, and X, which was not observed
in EAs. Both populations had significant CNL-LOH on chromosome 3. Further region-specific
analyses of chromosome 3 showed that AAs had significant CNL-LOH on the 3q region, while
EAs exhibited significant CNL-LOH on 3p. Collectively, 306 genes in 10 AA-enriched
chromosome regions were impacted by CNL-LOH. Significant AA-PPI enrichment
(P= 1.00-16) revealed greater biological interactions than expected and molecular functions in
scramblase activity (P=0.0382) Scramblase 5 was found to significantly interact with DIPK2A.
AAs had significantly lower expression of PLSCR4 and PLSCR5 (P= 5.17e-10, P=2.13e-10).
Conclusion: Population-specific CNL-LOH at the global and chromosomal levels was identified
in AAs with ccRCC
Discussion: Scramblases are proapoptotic proteins and suspected tumor suppressors. We
speculate CNL-LOH of scramblase genes can lead to loss of protein function, less apoptosis,
greater disease progression, and decreased survival in AAs.
Future Directions: Future work will explore the association between ccRCC patient survival by
race, CNL-LOH status, and scramblase expression.
Background
Figure 1. African American (AA) kidney cancer patients have lower
five-year survival than European American (EA) patients.
RIN
61.7%
MA
11%
91.3%
74.7%
Loss of heterozygosity in renal cell carcinoma from African American
and European American patients
Alex Bart and Khadijah A. Mitchell, PhD
Lafayette College, Department of Biology, Easton, PA
LA
14.6%
GI
Figure 2. Renal cell carcinoma (RCC) is the most common type of kidney
cancer (-85% of cases), consisting of three subtypes.
American Cancer Socies 2229 RC Cell Reports, 2018
Figure 3. AA RCC patients have worse survival than
EAs for each RCC subtype.
real
20
Month
Aims & Study Design
Figure 4. Copy Number Loss-Loss of Heterozygosity (CNL-LOH)
occurs either by simple deletion of one allele or
deletion of a portion of an allele.
Copy number lovs due to a portion of
an alle being lest
Copy number loss due to alele deletion
Metansrygmat
LOK
Hypothesis: CNL-LOH at aggressive tumor biology loci are
population-specific.
1. Imported
1113 CEL files
Aim 1: Analyze CNL-LOH in AA and EA clear cell RCC (ccRCC)
patients from the TCGA Discovery Cohort.
1. Imported
1042 CHP files
Hypothesis and Specific Aims
Alm 2: Perform Protein-Protein Interaction (PPI) analysis based on
AA-specific genes impacted by CNL-LOH.
–
Study Design
Affymetrix Genotyping Console Workflow
2. GOrd
1042 CEL files
in-bounds
Age (years)
Mean (SD)
Range
Sex (%)
Female
Male
Stage (%)+
I
11
1
IV
Unknown
Grade (%) +
2. QCed 1042
CHP files
Data that is in-bounds passed the QC antena.
Criteria 1: Select variants by allele frequencies
Criteria 2 Remove varams and samples with missing data
Partak Genomic Suite LOH Workflow
3. Perfomed
genotyping using the
Extend 12 sigoriton
2
3
4
Unknown
Vital Status (%) ^ &
Dead
Alive
Unknown
A Fisher’s exact test,+Chi square test, test
& unknown patients removed from significance testing
LOM
3. Perfomed parea
LOH analysis on 910
CHP files
Only tumor and normal pairs were included
(49 AA and 408 EA pairs)
59.9 (10.5)
37-81
28 (51)
27 (49)
38 (69)
Results
Table 1. Clinical and demographic information of ccRCC patients
6 (11)
1(2)
TOGA Discovery Cohert
25 (46)
21 (38)
2 (4)
Clear Cell RCC
AA (-55) EA(-45)
11 (20)
44 (80)
00
MA
AW 85
& Generated and
exported
4. Visualized
LOH results
Version 11.5
STRING
60.6 (122)
26-90
EA
a=438
153 (33)
305 (67)
217 (45)
(11)
112 (24)
78 (17)
2(0)
10 (2)
188 (41)
181 (40)
74 (16)
5 (1)
1.59 (35)
296 (65)
30
P
0.62
0.016
0.016
4033
Main Finding
There were significant differences by sex, stage, grade, and vital status
in the TCGA Discovery Cohort.
AA chr with significant CNL-LOH
1:33
3626.3
325.3
Results
Table 2. Chromosomes with significant CNL-LOH
AA Only
1:33
11p11.2
11p11.12
Xo1122
3p13
3q13.32
3921.3
30222
3024
XC25
3p13
3:22.1
3p21.33
3p21.2
3q13.32
3421.3
3022.2
3024
3p13
3q13.32
3021.3
30222
3024
11p11.2
11p11.12
Xp11.22
XQ25
Main Findings
AAs had significant CNL-LOH on Chromosomes 1, 11, and X,
but EAs did not.
Both AAs and EAs had significant CNL-LOH on chromosome 3.
AA only
CNL-LOH unique to AAS
81
7
53
13
Results
Figure 5. Venn diagram of significant CNL-LOH
on chromosome 3 cytobands
EA only
21
9
52
10
AA and LA
23
3p24.3
3253
39241
39221
3p21 33
3021.2
0
8
0
10
0
Table 3. 306 candidate genes impacted by CNL-LOH
across 10 cytobands
3
0
2
EA chr with significant CNL-LOH
Mixt
0
Wil
#Genes Tumor Suppressor Genes Oncogenes
1
37
4
4541
1:43
WAY
3p25.2
3:25.1
3:25.3
3:25.2
3p.25.1
3p24.3
3024.2
CNL-LOH unique to AAS
3p24.1
3p23
2
0
10
1
0
1
3:22.3
3:22.2
5
0
3p22.1
3p21.33
3p21.32
3:21.31
3p21.2
3:21.1
3p14.3
3014.2
3p14.1
0
Pas Lig
********
*
Other
36
71
STIGIPLE
33
12
15
5
45
10
19
Main Findings
AAs mostly had significant CNL-LOH on the 3q region, while EAS
exhibited significant CNL-LOH on 3p.
CNL-LOH impacted more tumor suppressor genes than oncogenes at
11p11.2, 3p13, and 3424
PUCKS
Results
Figure 6. Scramblase protein-protein interactions
57
La
PLICK2
VEZ
Ts
Figure 7. Expression of scramblase genes by race
3
B
POCRA
Main Findings
Four scramblases, tumor suppressor proteins, were functionally enriched
Scramblase 5 significantly interacted with DIPK2A
AAs had significantly lower expression of PLSCR4 and PLSCRS.
Conclusions & Discussion
OTW Owainger Vadinin Cater
AA
Conclusions
• AAs had significant CNL-LOH on chromosomes 1, 11, and X
. Both AAS and EAs had significant CNL-LOH on chromosome 3
with AAs having significant CNL-LOH on the 3q region while EAs
had significant CNL-LOH on the 3p region.
• Of 306 genes impacted by CNL-LOH, scramblase proteins encoded
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by PLSCR genes were functionally enriched.
•AAs had significantly lower expression of PLSCR4 and PLSCRS
than EAs.
Discussion
. AA scramblase tumor suppressor genes are more impacted by
CNL-LOH in comparison to EA ccRCC patients. Thus, CNL-LOH d
scramblase genes in AAs is expected to lead to loss of protein
function, decreased apoptosis, greater disease progression, and
worse survival.
Future Directions
• Validate these findings in the CHTN/Geisinger cohort.
• Perform survival analysis based on CNL-LOH status
High CNL 4.0% of Bibion
Funding Source:
Lafayette College
Department of Biology
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