THERE IS NO ASSOCIATION BETWEEN THE –318 (C→T) AND +49 (A→G) CTLA4 GENE POLYMORPHISMS AND THE COELIAC CONDITION IN THE MALTESE POPULATION
Borg J1,*, Scerri CA1,3, Vidal C2, Xuereb Anastasi A1,2
*Corresponding Author: Joseph Borg, B.Sc (Hons) MLS, Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, Biomedical Science Building, University of Malta, Msida, Malta; Tel.: +356-2340-2774, Fax: +356-2134-3535, E-mail: joseph.borg@biotech.um.edu.mt
page: 49

RESULTS

Demographic Data. Thirty-three (35.1%) of the coe­liac individuals were diagnosed between the ages of 31 and 45, with 26 (27.1%) diagnosed at age 46 years and over. Nineteen (20.2%) patients were diagnosed at an age younger than 15, while 16 (17.0%) were diagnosed between 16 and 30 years of age. The mean age of diag­nosis for all the patients was 34 years.

      The average age at diagnosis for the male coeliac pa­tients was 32 years, while for the female coeliac patients the average age at diagnosis was 34 years. An independent Student’s t-test, done between the age at diagnosis of males and females, showed no statistical significance (t = –0.65, p = 0.51), signifying that there is no difference in age at diagnosis between the two genders. Among the female population, the highest proportion (39%) were diagnosed between 31-45 years, with lower percentages [30% (46 or more), 17% (15 or less) and 14% (16-30)] for the other age groups. Among the male patients, the age distribution was approximately the same for all age groups. Twenty-six percent for age groups 15 or less, 16-30 years, 31-45 years, and 22% for the over 46 age group.

      The CTLA4 –318 (CT) and +49 (AG) Geno­types. The two polymorphisms were in Hardy-Weinberg equilibrium in both the neonatal control and coeliac popu­lation. The results are presented in Table 1. Possible asso­ciation between the studied CTLA4 gene polymorphisms and CD was tested by comparing the relative frequencies of the different genotypes between the neonatal controls and the coeliac samples. Using the Pearson chi-square test, no statistical difference was observed between the geno­types of the CTLA4 –318 (C→T) polymorphism among the neonatal controls and coeliac patients [χ2 = 1.20; degrees of freedom (df) = 1; p = 0.27]. The same test was used for the frequency of the CTLA4 +49 (A→G) geno­types among the neonatal controls and coeliac samples and showed no statistical difference (χ2 = 2.24; df = 1; p = 0.13). The Fisher’s exact test was employed to test for alleles of the neonatal controls with CD in both SNPs, but no statistically significant results were obtained for the –318 (C→T) (p = 0.54) and +49 (A→G) (p = 0.46) SNPs.

      Linkage Disequilibrium Between the –318 (CT) and +49 (AG) Polymorphisms. Evidence of linkage disequilibrium between alleles C and A was observed in the control group (χ2 = 10.49; p = 0.02). Haplotype fre­quencies were constructed by the estimated haplotypes program (ftp:/linkage.rockefeller.edu/software/utilities). The distribution of haplotype frequencies among the coe­liac patients and neonatal controls are shown in Table 2. No significant difference was observed between the two groups (χ2 = 0.04; p = 1.0).

 

Figure 1. Schematic representation of the CTLA4 gene showing the two SNPs studied in this project.

 

 

Table 1. Genotype distribution of the –318 (CT) and +49 (AG) polymorphims in the control and coeliac pop­ulation

 

SNP Genotype

–318 (CT)

Neonatal

Controls

Coeliac

Patients

CC

151

80

CT

34

20

TT

2

0

Hardy-Weinberg

equilibrium

χ 2 = 0.003;

p = 0.96

χ 2 = 1.2;

p = 0.27

SNP Genotype

+49 (AG)

Neonatal

Controls

Coeliac

Patients

AA

105

52

AG

70

45

GG

11

3

Hardy-Weinberg

equilibrium

χ 2 = 0.02;

p = 0.88

χ 2 = 3.4;

p = 0.07

 

 

Table 2. The CTLA4 haplotype counts in coeliac patients and neonatal controls

 

 

Allele at Locus

 

Haplotype Count

+49

(AG)

–318

(CT)

Neonatal

Controls

Coeliac

Patients

A

C

121

67

A

T

19

7

G

C

47

23

G

T

3

Total

 

187

100




Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006