Original article [602804]

Original article
Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian
hypertensive end stage renal disease patients
Noha S. Kandila,⇑, Rania Mohamed El Sharkawya, Lubna Mohamed Ibrahim Desoukyb,
Lamia Said Kandilc, I.M. Masoudd, Noha Gaber Amine
aDepartment of Chemical Pathology, Medical Research Institute, Alexandria University, Egypt
bDepartment of Human Genetics, Medical Research Institute, Alexandria University, Egypt
cDepartment of Pharmacology and Therapeutics, Faculty of Pharmacy and Drug Manufacturing, Pharos University, Egypt
dDepartment of Pharmaceutical Chemistry, Faculty of Pharmacy and Drug Manufacturing, Pharos University, Egypt
eDepartment of Internal Medicine, Faculty Of Medicine, Alexandria University, Egypt
article info
Article history:
Received 6 January 2018
Accepted 26 February 2018
Available online 6 March 2018
Keywords:
End stage renal diseaseRenalasegene polymorphismHemodialysisHypertenionabstract
Background: The highly polymorphic gene encoding human renalase (RNLS) is a 311,000 bp gene located
on chromosome 10.Aim: This study aimed at studying the possible association of the two RNLS gene polymorphisms
rs2576178 and rs10887800 with chronic kidney disease in general or specifically with hypertensive
nephropathy in Egyptian end stage renal disease (ESRD) patients on maintenance hemodialysis.
Subjects and method: This case control study was conducted on two hundred and eighty one individuals,
divided equally into two groups; an end stage renal disease patients on maintenance hemodialysis with/
without hypertension and healthy matching individuals as a control group. Full clinical examination,Biochemical analysis and Molecular genetic testing were performed to detect single nucleotide polymor-
phism using restriction fraction length polymorphism (RFLP) for RNLS rs2576178 and rs1088780.
Results: The results of this study demonstrated that the risk of developing ESRD was increased among
carriers of AA genotype for the rs10887800 (3.05 times) p = 0.001, OR = 3.05, CI95% (1.558–5.971) andGG genotype for the rs2576178 p = 0.047, OR = 1.949, CI95% (1.028–3.694).
Conclusion: Our study revealed that the risk of developing end stage renal diseases was increased among
carriers of AA genotype for the rs10887800 polymorphism and GG genotype for the rs2576178polymorphism.
/C2112018 Ain Shams University. Production and hosting by Elsevier B.V. This is an open access article under
the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ).
1. Introduction
The renalase, also known as monoaminooxidase-C (MAO-C), is a
flavoprotein enzyme that participates in the metabolism of circu-
lating catecholamines [1]. It metabolizes catecholamines and
catecholamine-like substances via a superoxide dependent mecha-
nism using nicotinamide adenine dinucleotide (NADH) as a cofac-
tor[2]. At least four isoforms of renalase enzyme protein have been
identified. Two of them possess an unchanged amino acid domain
(h-renalase 1), whereas the other two have shortened domains
(h-renalase 2) [3].
Renalase is synthesized mainly by the kidneys and is excreted
directly into the blood, where it participates in the metabolismof circulating catecholamines [4]. Renalase activity is not inhibited
by known monoamineoxidase (MAO) inhibitors such as pargyline
and clorgyline [4,5] . Renalase plays a direct significant role in the
regulation of blood pressure thus its insufficiency predisposes to
higher blood pressure values. [6,7]
Renalase levels were reported to be low in chronic kidney dis-
ease patients implicating its role in development of hypertension
and associated morbidity and mortality in such patients [1–3] .
The observation of a significant renalase deficiency in end stage
renal disease (ESRD) patients was confirmed by experimental mod-
els of uremia in rats following nephrectomies [8]. Such a deficiency
leads to impaired degradation of catecholamines, causing exces-
sive tension of the sympathetic nervous system that is related to
a high risk of cardiovascular diseases [9–11] . Therefore, renalase
deficiency could represent an unknown pathophysiological mech-
anism that might partially explain the high rates of hypertension in
ESRD patients.
https://doi.org/10.1016/j.ejmhg.2018.02.004
1110-8630/ /C2112018 Ain Shams University. Production and hosting by Elsevier B.V.
This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ).Peer review under responsibility of Ain Shams University.
⇑Corresponding author.
E-mail address: drnohakandil@yahoo.com (N.S. Kandil).The Egyptian Journal of Medical Human Genetics 19 (2018) 379–383
Contents lists available at ScienceDirect
The Egyptian Journal of Medical Human Genetics
journal homepage: www. sciencedirect.com

The gene encoding human renalase (RNLS) is a 311,000 base
pairs (bp) gene located on chromosome 10 (q23.33) that consists
of 10 exons [1]. Being highly polymorphic, several single nucleo-
tide polymorphisms (SNPs) of RNLS gene have been recently
described. Single nucleotide polymorphisms (SNPs) rs2576178
GG and rs2296545 CC genotypes have been found to be associated
with essential hypertension in Northern Han Chinese population
[12]. Also rs2296545 CC was found to be associated with cardiac
hypertrophy, dysfunction and ischemia in Caucasians [11]. Fur-
thermore, the rs2576178 and rs10887800 GG allele were demon-
strated to be significantly higher in hypertensive Egyptian type 2
diabetic patients compared to normotensive diabetic patients
and control group [13] .
A recent study suggested an association between two SNPs
(rs2576178 and rs10887800) in RNLS gene and hypertension inPolish ESRD patients [14].
2. Aim
This study aimed at studying the possible association of the two
RNLS gene polymorphisms rs2576178 and rs10887800 with
chronic kidney disease in general or specifically with hypertensive
nephropathy in Egyptian end stage renal disease (ESRD) patients
on maintenance hemodialysis.
3. Subjects and methods
This type of case control study was conducted in the period
from December 2015 to October 2016 on two hundred and
eighty-one individuals, divided into two groups; a 141 end stage
renal disease patients on maintenance hemodialysis with and
without hypertension gathered from the nephrology unit of the
internal medicine department of the Medical Research Institute
Teaching Hospital, and 140 apparently healthy individuals of com-
parable age and gender serving as a control group, gathered from
the outpatient clinics of the Institute. Informed consents were
obtained from all individuals undergoing this study, which were
approved by the local ethics committee of the Institute in accor-
dance with The Code of Ethics of the World Medical Association
(Declaration of Helsinki) for research involving humans.
Full clinical examination was done to all participating individu-
als including duration of hemodialysis, history of hypertension,
presence of type 2 diabetes mellitus (DM2), and use of antihyper-
tensive medication, along with physical examination with stress
on blood pressure measurement, and the calculation of mean blood
pressure and pulse pressure. Hypertension was diagnosed accord-
ing to the European Society of Cardiology guidelines for the man-agement of arterial hypertension having /C21140 systolic and /C2190
diastolic as cutoff values. [15]. Patient was at a supine position
for at least 5 min prior to blood pressure measurement. The aver-
age values of predialysis, systolic and diastolic blood pressures
reported in the first 4 weeks of the study were collected and used
for the analysis. Mean arterial pressure was calculated from the
following standard equation: 1/3 of the systolic blood pressure
plus 2/3 of the diastolic blood pressure. The hypertensive group,
although receiving antihypertensive drugs were not strictly
controlled.
3.1. Biochemical analysis
Following a twelve hours fasting period, whole venous blood
sample was obtained from each subject and divided into two por-
tions, one portion was collected in Potassium Ethylenediaminete-
traacetic acid (K
3EDTA) coated vacutainer tubes for genomic
studies, while the other portion was collected in serum vacutainertubes, left to clot 10 min and centrifuged. The obtained serum was
analyzed for glucose, creatinine, alanine aminotransferase, total
cholesterol, high density lipoprotein cholesterol fraction, and
triglycerides. Analyses were conducted using Olympus reagents,
on the Olympus AU400 clinical chemistry analyzer (Beckman Coul-
ter Inc, Brea CA, USA). The low density lipoprotein cholesterol frac-
tion was calculated using Friedwald formula.
3.2. Molecular genetic testing
Genomic DNA was extracted from whole EDTA blood samples
using Gene JETTMgenomic DNA purification kit (Thermo Fischer Sci-
entific, USA), according to the manufacturer’s instructions. The
purity and integrity of the extracted DNA were assessed using
the NanoDropTM1000 spectrophotometer, utilizing the 260 and
280 nm filters and gel electrophoresis. Polymerase chain reaction
(PCR)–restriction fragment length polymorphism (RFLP) was car-
ried out according to the method described by Stec et al. [14].
Separate PCR was done for both SNPs. In a 25 lL reaction volume,
10–50 ng of genomic DNA were mixed with PCR master mix and
primer sets specific for the DNA sequence to be amplified (Fermen-
tas, Thermoscientific, USA). Details of primer sequences, cycler
conditions and PCR product length (bp) are supplied in Table 1 .
Presence of the PCR products was ascertained using electrophore-
sis on a 2% agarose gel, with band staining using ethidium bromide.
Next was the digsteion by the restriction enzymes step, were
enzymes Msp I and Pst I (Fermentas, Thermoscientific, USA) were
used to identify the rs2576178 and rs10887800 polymorphisms
respectively in the RNLS gene, utilizing protocols supplied by the
manufacturer. Restriction products were detected by electrophore-
sis on a 3% agarose gel that was visualized using a UV
luminescence.
In the RNLS rs2576178 polymorphism, adenine replaced by
guanine in the 50-flanking region of the gene, so restriction prod-
ucts of 423 and 102 bp fragments denoted GG genotype while
525 bp denoted AA wild genotype. On the other hand, the RNLS
rs10887800 polymorphism was characterized by guanine
Table 1
Primer sequences, cycler conditions and RFLP enzymes and conditions for bothpolymorphisms.
Renalase (RNLS) gene
Primers Forward (sense) Reverse (Anti-sense)
rs2576178 50-AGC AGA GAA GCA GCT
TAA CCT-3050-TTA TCT GCA AGT CAG
CGT AAC-30
rs10887800 50-CAG GAA AGA AAG
AGT TGA CAT-3050-AA GTT GTT CCA GCT
ACT GT-30
Polymerase chain reaction conditions for both polymorphisms (rs2576178/
rs10887800)
Cycle components Time Temperature ( /C176C)
Initial denaturation 5 min 94
30–35 Cycles:
Denaturation 2 min 94
Annealing 30sec 60
Extension 2 min 72
Final elongation 7 min 72Amplicon (bp) 525 554
Restriction fragment length polymorphism (RFLP)
rs2576178 rs10887800
Enzyme Msp I (SMEs) Pst I
Concentration (U) 5 U 5 UPCR product (
lL) 10 lL1 0 lL
Time(hours)–
Temperature ( /C176C)6–10 h/37 /C176C
3% agarose gel
Electrophoresis
Renalase (RNLS), Restriction fragment length polymorphism (RFLP)380 N.S. Kandil et al. / The Egyptian Journal of Medical Human Genetics 19 (2018) 379–383

replacing adenine in intron 6 of the gene, with restriction frag-
ments of 415 and 139 bp representing the GG genotype while
554 bp represented the AA wild genotype.
3.3. Statistical analysis
Data were fed to the computer and analyzed using IBM SPSS
software package version 20.0. The Kolmogorov-Smirnov test was
used to verify the normality of distribution. Comparisons between
groups for categorical variables were assessed using Chi-square
test (Monte Carlo). Mann Whitney test was used to compare two
groups for abnormally distributed quantitative variables while
ANOVA was used for comparing the studied groups and followed
by Post Hoc test (LSD) for pairwise comparison. Kruskal Wallis test
was used to compare different groups for abnormally distributed
quantitative variables and followed by (Dunn’s multiple compar-
isons test) for pairwise comparisons. Odd ratio (OR) used to calcu-
late the ratio of the odds and 95% Confidence Interval of an event
occurring in one risk group to the odds of it occurring in the
non-risk group. Significance of the obtained results was judged at
the 5% level.
4. Results
The present study is a case control study conducted on patients
in Medical Research Institute their demographic data is presented
inTables 2 and 3 . The mean age of the control group was 57.9 years
which was significantly higher than both the hypertensive and
normotensive ESRD groups which were 54.6 and 48.3 years respec-
tively. The mean systolic and diastolic blood pressures in the con-
trol, hypertensive and normotensive ESRD groups were 117.5/75.6,
136.7/23.4 and 123.4/77.7 mmhg respectively. Family history of
hypertension was observed among both hypertensive and nor-
motensive ESRD. 51.7% of the hypertensive ESRD patients had apositive family history of hypertension while only 20.4% of nor-
motensive ESRD had positive family history of hypertension.
Two RNLS gene polymorphisms [rs10887800 (intron 6) and
rs2576178 (50flanking region)] were genotyped in the 141 ESRD
patients on maintenance hemodialysis (87 hypertensive and 54
normotensive) as well as in the 140 healthy control group.
The distributions of rs2576178 and rs10887800 gene polymor-
phisms genotypes in ESRD patients with or without hypertension
were compared to those in the control group. The frequencies of
genotypes in each group were in accordance with the Hardy Wein-
berg equilibrium.
As regards the rs2576178 polymorphism, significant differences
in genotype distributions were observed in ESRD patients with or
without hypertension when compared to those in the control
group. The frequency of the wild genotype (AA) was significantlyhigher among healthy controls (48.6%) when compared to ESRD
patients whether hypertensive or normotensive (29.1%) (P =
0.001, OR: 0.434, CI 95%: 0.265–0.710), However, The frequency
of the genotype (GG) was higher among ESRD patients whether
hypertensive or normotensive (28.4%) when compared to healthy
controls (17.1%) (P = 0.032, OR: 1.91, CI 95%:1.080–3.392).
As for the rs10887800 polymorphism, the frequency of AA
genotype was significantly higher in all ESRD patients (hyperten-
sive and normotensive) (27.7%) compared to healthy controls
(12.9%). (P = 0.003, OR: 2.592, CI 95%: 1.398–4.804) ( Table 4 )
When comparing polymorphism frequencies for rs2576178
between hypertensive ESRD patients (n = 87) and healthy controls
(n = 140), the frequency of the AA genotype was significantly
increased (p = 0.001) in healthy controls (48.6%) when compared
to hypertensive renal patients (26.4%). The risk of developing ESRD
induced hypertension in such patients decreased significantly with
AA genotype carriers (OR = 0.381, 95%CI = 0.213–0.680).
As regards the rs10887800 the frequency of AA genotype was sig-
nificantly higher (p = 0.001) in hypertensive renal patients (31.0%)
compared to healthy controls (12.9%), with a higher risk of develop-
Table 2
Demographic Data among different studied groups.
Control (n = 140) Patients Test of Sig. p
With Hypertensive (n = 87) Without Hypertensive (n = 54)
Age
Mean ± SD. 57.9 ± 9.6 54.6 ± 13.8 48.3 ± 14.8 F = 12.322*<0.001*
MAPMean ± SD. 89.7 ± 4.2 101.2 ± 13.8 92.9 ± 10.1 F = 40.552
*<0.001*
Systolic blood pressure
Mean ± SD. 117.5 ± 7 136.7 ± 23.4 123.4 ± 16.3 F = 40.830*<0.001*
Diastolic blood pressure
Mean ± SD. 75.9 ± 4.1 82.8 ± 9.6 77.7 ± 7.9 F = 26.935*<0.001*
Pulse pressureMedian (Min. – Max.) 40 (25–55) 50 (30–110) 40 (30–90)
v2,p :v2and p values for Chi square test for comparing between the three groups
F, p: F and p values for ANOVA test , Significance between groups was done using Post Hoc Test (LSD)
H, p: H and p values for Kruskal Wallis test , Significance between groups was done using Post Hoc Test (Dunn’s multiple comparisons test)
*: Statistically significant at p /C200.05
Table 3
Comparison between the two studied groups according to family history of hypertension and duration of dialysis.
Patients Test of Sig. p
With Hypertensive (n = 87) Without Hypertensive (n = 54)
Family history of HTN
No 42 (48.3%) 43 (79.6%) v2= 13.681*<0.001*
Yes 45 (51.7%) 11 (20.4%)Duration of dialysisMedian (Min. – Max.) 5 (0–20) 5 (1–26) U = 2274.0 0.749
v2,p :v2and p values for Chi square test for comparing between the two groups
U, p: U and p values for Mann Whitney test for comparing between the two groups
*: Statistically significant at p /C200.05N.S. Kandil et al. / The Egyptian Journal of Medical Human Genetics 19 (2018) 379–383 381

ing ESRD induced hypertension (OR = 3.050, 95%CI = 1.558–5.971).
However, no significant differences in the genotype frequencies
for RNLS gene rs2576178 and rs2576800 polymorphisms were
noted when comparing polymorphism frequencies for non-
hypertensive renal patients and healthy controls. ( Tables 5 and 6 )
When comparing polymorphism frequencies in both rs2576178
and rs10887800 between hypertensive and normotensive ESRD
patients, no statistically significant differences were noted in the
AA, AG and GG genotypes in both polymorphisms. ( Table 7 )
5. Discussion
The risk of developing high blood pressure is greater in patients
suffering from ESRD particularly those on maintenance HD due tomany contributing factors mainly hypervolemia and increased
sympathetic activity. Great focus has been recently directed
towards the genetic factor as a main contributor to hypertension
especially in this population.
Renalase has been the focus of many studies identifying its role
in blood pressure regulation and susceptibility to diseases [6][7] ].
In the present case–control study, the possibility of an association
between two SNPs (rs2576178 and rs10887800) in RNLS gene and
hypertension in Egyptian ESRD patients on maintenance hemodial-
ysis was evaluated.
The genotypes of RNLS gene rs2576178 and rs10887800 poly-
morphisms were analyzed in hypertensive and normotensive ESRDpatients on maintenance hemodialysis as well as in a control group
of healthy individuals in order to find out the possible associationTable 4
The distributions of rs2576178 and rs10887800 gene polymorphisms genotypes in ESRD patients with or without hypertension were compared to those in t he control group.
Groups/SNP Control (1)
n = 140 /280Patients (2)
n = 141/282P – Value OR CI 95%
Frequency (%) Frequency (%)
S178 Allele A 184 65.7% 142 50.4% 0.0002*0.5292 0.3768–0.7433
Allele G 96 34.3% 140 49.6% 0.0002*1.8897 1.3454–2.6541
AA 68 48.6% 41 29.1% 0.001*0.434 0.265–0.710
GA 48 34.3% 60 42.6% 0.178 1.420 0.876–2.301GG 24 17.1% 40 28.4% 0.032
*1.914 1.080–3.392
S800 Allele A 113 40.4% 150 53.2% 0.002*1.6794 1.2023–2.3459
Allele G 167 59.6% 132 46.8% 0.002*0.5954 0.4263–0.8318
AA 18 12.9% 39 27.7% 0.003*2.592 1.398–4.804
AG 77 55.0% 72 51.1% 0.551 0.854 0.534–1.365GG 45 32.1% 30 21.3% 0.044
*0.571 0.333–0.976
ESRD = end stage renal disease, SNP = single nucleotide gene polymorphism, n = number, OR = odds ratio, CI = confidence interval, P- Value = p value for comp aring between
the studied groups*: Statistically significant at p /C200.05
Table 5
The distributions of rs2576178 and rs10887800 gene polymorphisms between hypertensive ESRD patients and the control group.
Groups/SNP Control (1)
n = 140Patients (2)
n=8 7P – Value OR CI 95%
Frequency (%) Frequency (%)
S178 Allele A 184 65.7% 85 48.9% 0.0004*0.4983 0.3386–0.7333
Allele G 96 34.3% 89 51.1% 0.0004*2.0069 1.3638–2.9533
AA 68 48.6% 23 26.4% 0.001*0.381 0.213–0.680
GA 48 34.3% 39 44.8% 0.124 1.557 0.900–2.694
GG 24 17.1% 25 28.7% 0.047*1.949 1.028–3.694
S800 Allele A 113 40.4% 98 56.3% 0.001*1.9057x 1.2992–2.7952
Allele G 167 59.6% 76 43.7% 0.001*0.5247x 0.3578–0.7697
AA 18 12.9% 27 31.0% 0.001*3.050 1.558–5.971
AG 77 55.0% 44 50.6% 0.585 0.837 0.490–1.431GG 45 32.1% 16 18.4% 0.031
*0.476 0.249–0.910
ESRD = end stage renal disease, SNP = single nucleotide gene polymorphism, n = number, OR = odds ratio, CI = confidence interval, P- Value = p value for comp aring between
the studied groups*: Statistically significant at p /C200.05
Table 6
The distributions of rs2576178 and rs10887800 gene polymorphisms between non hypertensive ESRD patients and the control group.
Groups/SNP Control (1)
n = 140Patients (2)
n=5 4P – Value OR CI 95%
Frequency (%) Frequency (%)
S178 Allele A 184 65.7% 57 52.8% 0.019*0.5831 0.3714–0.9156
Allele G 96 34.3% 51 47.2% 0.019*1.7149 1.0921–2.6929
AA 68 48.6% 18 33.3% 0.056 0.529 0.275–1.020
GA 48 34.3% 21 38.9% 0.548 1.220 0.637–2.334GG 24 17.1% 15 27.8% 0.098 1.859 0.887–3.897
S800 Allele A 113 40.4% 52 48.2% 0.17 1.3723 0.878–2.145
Allele G 167 59.6% 56 51.8% 0.17 0.7287 0.4662–1.139AA 18 12.9% 12 22.2% 0.106 1.937 0.861–4.354AG 77 55.0% 28 51.9% 0.693 0.881 0.470–1.653GG 45 32.1% 14 25.9% 0.399 0.739 0.365–1.495
ESRD = end stage renal disease, SNP = single nucleotide gene polymorphism, n = number, OR = odds ratio, CI = confidence interval, P- Value = p value for comp aring between
the studied groups
*: Statistically significant at p /C200.05382 N.S. Kandil et al. / The Egyptian Journal of Medical Human Genetics 19 (2018) 379–383

between RNLS gene rs2576178 and rs10887800 polymorphisms
and hypertensive ESRD.
Based on literature review [16],[17]] regarding the link between
these two polymorphisms and the risk of developing hypertension,
controversial findings were observed. A study done by Zhao et al.
[16] on Northern Han Chinese population reported the association
of RNLS gene rs2576178 polymorphism with essential hyperten-
sion [16]. Stec et al. confirmed the same finding by revealing an
increased risk of hypertension in Polish Caucasian ESRD hyperten-
sive patients who were carriers of G allele in both rs2576178 and
rs10887800 RNLS gene polymorphisms, it has to be noted that
healthy volunteers were not examined in that study. [14]. However
Abdallah et al. [17], reported no statistically significant difference
in G allele frequency between hypertensive and normotensive
ESRD patients, as well as the absence of a significant increase in
the risk of developing hypertension in G allele carriers for both
rs2576178 and rs10887800 RNLS gene SNPs. These findings were
confirmed by Kiseljakovic et al. [18], who confirmed no significant
association between RNLS gene rs2576178 polymorphism and
hypertension in HD patients. Our study confirmed the findings of
both Abdallah et al. [17] and Kiseljakovic et al. [18] where no sig-
nificant association was found between RNLS gene rs2576178 and/or rs10887800 polymorphisms and hypertension among hyperten-
sive HD cases in a cohort of Egyptian population.
As regards the rs2576178, our results demonstrated a protec-
tive effect for AA carriers against risk of developing ESRD. On the
contrary Kiseljakovic et al. found no association of this RNLS gene
polymorphism and renal function in population of Bosnia and
Herzegovina [18].
On the other hand, the results of this study demonstrated that
the risk of developing ESRD was increased among carriers of AA
genotype for the rs10887800 (3.05 times) p = 0.001, OR = 3.05, CI
95% (1.558–5.971) and GG genotype for the rs2576178 p = 0.047,
OR = 1.949, CI 95% (1.028–3.694). Abdallah et al. found that carri-
ers of the G allele for both polymorphisms were at higher risk of
developing ESRD. (18) Such an opposition can be explained that
our study included larger sample size for control group (140
healthy volunteers) compared to the control group in the study
done by Abdallah et al. (50 healthy volunteers).
To conclude our study supports that the two studied polymor-
phisms rs2576178 and rs10887800 in the RNLS gene are not asso-
ciated with increased risk of developing hypertension among
Egyptian end stage renal disease patients. However, our study
revealed that the risk of developing end stage renal diseases was
increased among carriers of AA genotype for the rs10887800 poly-
morphism and GG genotype for the rs2576178 polymorphism. Werecommend that further studies should be conducted to investi-
gate this association on a larger sample size to confirm our
findings.
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The distributions of rs2576178 and rs10887800 gene polymorphisms between hypertensive and normotensive ESRD patients.
Groups/SNP Hypertensive Patients
n=8 7Normotensive ESRD patients
n=5 4P – Value OR CI 95%
Frequency (%) Frequency (%)
S178 Allele A 85 48.9% 57 52.8% 0.542 0.855 0.5284–1.382
Allele G 89 51.1% 51 47.2% 0.542 1.1702 0.7236–1.825AA 23 26.4% 18 33.3% 0.381 1.391 0.664–2.915GA 39 44.8% 21 38.9% 0.488 0.783 0.392–1.564GG 25 28.7% 15 27.8% 0.902 0.954 0.448–2.030
S800 Allele A 98 56.3% 52 48.2% 0.219 1.3887 0. 8577–2.2484
Allele G 76 43.7% 56 51.8% 0.219 0.7201 0.4448–1.166
AA 27 31.0% 12 22.2% 0.255 0.635 0.289–1.393AG 44 50.6% 28 51.9% 0.883 1.052 0.534–2.076GG 16 18.4% 14 25.9% 0.288 1.553 0.687–3.510
ESRD = end stage renal disease, SNP = single nucleotide gene polymorphism, n = number, OR = odds ratio, CI = confidence interval, P- Value = p value for comp aring between
the studied groups*: Statistically significant at p /C200.05N.S. Kandil et al. / The Egyptian Journal of Medical Human Genetics 19 (2018) 379–383 383