Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of 
autoimmune thyroid diseases in the Tunisian population

S Mestiri; I Zaaber; I Nasr; H Marmouch

doi:10.2478/bjmg-2020-0011

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Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population

Balkan Journal of Medical Genetics

Volume 23 (2020): Issue 1 (June 2020)

By: S Mestiri, I Zaaber, I Nasr and H Marmouch

Open Access

|Aug 2020

Figures & Tables

Vitamin D receptor rs7975232 polymorphism analysis. Lane M: molecular weight marker (100 bp DNA Ladder); Lane 1: homozygote (C/C); lanes 2 and 3: heterozygotes (C/A); lanes 4 and 5: homozygotes (A/A).

The *FCGR2A* rs1801274 polymorphism analysis. Lane M: molecular weight marker (100 bp DNA ladder); lane N: negative control; lanes P1 : patient 1, heterozygote (R/H); lanes P2: patient 2, homozygote (H/H); lanes P3 and P4: patients 3 and 4, homozygotes (R/R).

Table 1

Distribution of VDR rs7975232 polymorphism genotypes and alleles in healthy control (n = 162), in autoimmune thyroid disease patients AITD patients (n = 162), Hashimoto’s thyroiditis patients (n = 106) and Graves’ disease patients (n = 56).

	Controls	AITD Patients			HT Patients			GD Patients
Genotypes/ Alleles	n(%)	n(%)	p(𝜒²)	OR (95% CI)	n(%)	p(𝜒²)	OR (95% CI)	n(%)	p(𝜒²)	OR (95% CI)
CC	58(35.8)	49(30.2)		reference	30 (28.3)		reference	19(33.9)		reference
CA	68(42.0)	69(42.6)	0.56(0.33)	1.20(0.72-1.99)	49 (46.2)	0.32(0.97)	1.39(0.78-2.47)	20(35.7)	0.91 (0.01)	0.89(0.43-1.84)
AA	36(22.2)	44(27.2)	0.27(1.20)	1.44(0.80-2.58)	27(25.5)	0.35(0.85)	1.45 (0.74-2.82)	17(30.4)	0.46(0.52)	1.44(0.66-3.12)
CA+AAa	104(64.2)	113 (69.8)	0.34(0.89)	1.28(0.80-2.04)	76 (71.7)	0.25(1.31)	1.41 (0.83-2.40)	37(66.1)	0.92(0.008)	1.08(0.57-2.05)
C	184(56.8)	167(51.5)		reference	109 (51.4)		reference	58(51.8)		reference
A	140(43.2)	157(48.5)	0.20(1.59)	1.23 (0.90-1.68)	103 (48.6)	0.25(1.28)	1.24(0.87-1.75)	54(48.2)	0.41 (0.65)	1.22(0.79-1.88)

AITD: autoimmune thyroid disease patients; HT: Hashimoto’s thyroiditis patients; GD: Graves’ disease patients; n: number of individuals.

a Dominant model.

Table 2

Distribution of FCGR2A rs1801274 polymorphism genotypes and alleles in healthy controls (n = 162), autoimmune thyroid disease patients (n = 162), Hashimoto’s thyroiditis patients (n = 106) and Graves’ disease patients (n = 56).

	Controls	AITD Patients			HI Patients			GD Patients
Genotypes/ Alleles	n(%)	n(%)	p(𝜒²)	OR (95% CI)	n(%)	p(𝜒²)	OR (95% CI)	n(%)	p(𝜒²)	OR (95% CI)
RR	62(38.3)	43 (26.6)		reference	24 (22.6)		reference	19(34.0)		reference
RH	73 (45.0)	78(48.1)	0.11 (2.43)	1.54(0.93-2.54)	57(53.8)	0.026 (4.95)	2.01 (1.12-3.62)	21 (37.5)	0.99(0.00)	0.93 (0.46-1.90)
HH	27(16.7)	41 (25.3)	0.019(5.43)	2.18 (1.17-4.07)	25(23.6)	0.026(4.91)	2.39 (1.16-4.91)	16(28.5)	0.15 (1.98)	1.93 (0.86-4.34)
RH+HHa	100(61.7)	119(73.4)	0.030(4.56)	1.71 (1.07-2.74)	82 (77.4)	0.01 (6.48)	2.11 (1.21-3.68)	37(66.0)	0.67(0.17)	1.20(0.63-2.28)
R	197(60.8)	164(50.6)		reference	105(49.5)		reference	59(52.7)		reference
H	127(39.2)	160(49.4)	0.011 (6.40)	1.51 (1.10-2.06)	107(50.5)	0.012(6.17)	1.58(1.11-2.24)	53 (47.3)	0.16(1.94)	1.39(0.90-2.14)

AITD: autoimmune thyroid disease patients; HT: Hashimoto’s thyroiditis patients; GD: Graves’ disease patients; n: number of individuals.

a Dominant model.

Table 3

Distribution of VDR rs7975232 polymorphism genotypes and alleles in autoimmune thyroid disease patients according to clinical parameters.

	Gender			Age			Anti-Tg Antibodies			Anti-TPO Antibodies
Genotypes/ Alleles	Fn(%)	Mn(%)	P	<40n(%)	≥40n(%)	P	[-]n(%)	[+]n(%)	P	[-]n(%)	[+]n(%)	P
CC CA	46(32.0) 58(40.2)	3 (16.7) 11 (61.1)	NS	8(19.0) 17(40.5)	41 (34.2) 52(43.3)	NS	18(41.0) 17(38.6)	12(26.7) 15 (33.3)	NS	13 (34.2) 14(36.8)	18(37.6) 15 (31.2)	NS
AA	40(27.8)	4(22.2)	NS	17(40.5)	27(22.5)	p 0.02; (𝜒²:4.79) OR: 3.22; 95% CI: 1.22-8.51	9(20.4)	18(40.0)	NS	11 (29.0)	15(31.2)	NS
CA+AAa	98(68.0)	15 (83.3)	NS	34(81.0)	79(65.8)	NS	26(59.0)	33 (73.3)	NS	25 (65.8)	30(62.5)	NS
C	150(52.0)	17(47.2)		33 (39.3)	134(55.8)		53 (60.2)	39(43.3)		40(52.6)	51(53.1)
A	138(48.0)	19(52.8)	NS	51 (60.7)	106(44.2)	p 0.01; (𝜒²:6.17) OR: 1.95; 95% CI: 1.17-3.24	35(39.8)	51 (56.7)	p 0.03; (𝜒²:4.43); OR: 1.98; 95% CI: 1.09-3.59	36(47.4)	45 (46.9)	NS

AITD: autoimmune thyroid disease patients; Anti-Tg antibodies: anti-thyroglobulin antibodies; Anti-TPO antibodies: anti-thyroid peroxidase antibodies; F: female; M: male; NS: not significant.

a Dominant model.

Table 4

Distribution of VDR rs7975232 polymorphism genotypes and alleles in Graves’ disease patients according to clinical parameters.

	Gender			Age			Anti-Tg Antibodies			Anti-TPO Antibodies
Genotypes/ Alleles	Fn(%)	Mn(%)	P	<40n(%)	≥40n(%)	P	[-]n(%)	[+]n(%)	P	[-]n(%)	[+]n(%)	P
CC	17(37.8)	2(18.2)		3 (20.0)	16(39.0)		7(53.9)	3 (21.4)		6(42.8)	5(38.5)
CA	13 (28.9)	7(63.6)	NS	3 (20.0)	17(41.5)	NS	4(30.7)	5 (35.7)	NS	4(28.6)	5 (38.5)	NS
AA	15 (33.3)	2(18.2)	NS	9(60.0)	8 (19.5)	p95b: 0.03% CI; :OR: 1.26-6.0028.49 ;	2(15.4)	6(42.9)	NS	4(28.6)	3 (23.0)	NS
CA+AAa	28(62.2)	9(81.8)	NS	12(80.0)	25(61.0)	NS	6(46.1)	11 (78.6)	NS	8(57.2)	8(61.5)	NS
C	47(52.2)	11 (50.0)		9(30.0)	49 (59.8)		18(69.2)	11 (39.3)		16(57.1)	15 (57.7)
A	43 (47.8)	11 (50.0)	NS	21 (70.0)	33 (40.2)	p. 0.009; (𝜒²:6.64); OR: 3.46; 95% CI: 1.41-8.49	8(30.8)	17(60.7)	p 0.05; (𝜒²:3.73); OR: 3.47; 95% CI: 1.12-10.72	12(42.9)	11 (42.3)	NS

Anti-Tg antibodies: anti-thyroglobulin antibodies, Anti-TPO antibodies: anti-thyroid peroxydase antibodies, F: female; M: male; NS: not significant.

b Fisher’s exact test.

a Dominant model.

Table 5

Hormone levels among the VDR and the FCGR2A genotypes in Hashimoto’s thyroiditis and Graves’ disease patients.

	HT Patients				GD Patients
VDR rs7975232	TSHa	P	T4a	P	TSHa	P	T4a	P
CC	56.1±105.8		9.5±7.6		0.10±0.40		50.4±52.6
CA	47.0±94.5	NS	8.3±4.3	NS	0.60±1.80	NS	38.4±25.2	NS
AA	117.2±176.3	NS	24.5+90.2	0.044	0.10±0.50	NS	43.3±59.2	NS
FCGR2A rs1801274
RR	110.3±182.9		6.4+4.6		0.01±0.02		63.7±57.2
RH	68.2+118.9	NS	19.1+65.7	NS	0.40±1.50	NS	41.3±22.1	NS
HH	55.7+86.8	NS	6.9±4.8	NS	0.10±0.50	NS	31.3±23.0	0.015

HT: Hashimotos thyroiditis; GD: Grave’s disease; TSH: thyroid stimulating hormone;T4: tetraiodothyroxine, NS: no significant.

a The range of normal values for TSH is 0.15-5.0 mIU/L and for T4 is 8.6-25.0 pmol/L.

Table 6

Distribution of FCGR2A rs1801274 polymorphism genotypes and alleles in Hashimoto’s thyroiditis patients according to clinical parameters.

	Gender			Age			Anti-Tg Antibodies			Anti-TPO Antibodies
Genotypes/ Alleles	Fn(%)	Mn(%)	P	<40n(%)	≥40n(%)	P	[-]n(%)	[+]n(%)	P	[-]n(%)	[+]n(%)	P
RR	24(24.3)	0(0.0)		6(22.3)	18(22.8)		6(19.3)	6(19.3)		5(20.8)	6(17.1)
RH	54(54.5)	3 (42.9)	NS	16(59.2)	41 (51.9)	NS	15 (48.4)	17(54.9)	NS	12 (50.0)	19(54.3)	NS
HH	21 (21.2)	4(57.1)	NS	5(18.5)	20(25.3)	NS	10 (32.3)	8(25.8)	NS	7(29.2)	10(28.6)	NS
RH+HHa	75(75.7)	7(1.0)	NS	21 (77.7)	61 (77.2)	NS	25 (80.7)	25(80.7)	NS	19(79.2)	29(82.9)	NS
R	102(51.5)	3(21.4)		28(51.8)	77(48.7)		27(43.5)	29(46.8)		22(45.8)	31 (44.3)
H	96(48.5)	11 (78.6)	pb: 0.04; OR: 0.25; 95% CI: 0.06-0.94	26(48.2)	81 (51.3)	NS	35 (56.5)	33 (53.2)	NS	26(54.2)	39(55.7)	NS

Anti-Tg antibodies: anti-thyroglobulin antibodies; Anti-TPO antibodies: anti-thyroid peroxydase antibodies; F: female, M: male, NS: no significant.

a Dominant model.

b Fisher’s exact test.

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DOI: https://doi.org/10.2478/bjmg-2020-0011 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160

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Language: English

Page range: 69 - 76

Published on: Aug 26, 2020

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Keywords:

Anti-thyroglobulin (anti-Tg) antibodies,

Autoimmune thyroid diseases (AITD),

Fcγ receptor VIA (FcγRIIA),

Tetraiodothyroxine,

Vitamin D receptor (VDR)

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2020 S Mestiri, I Zaaber, I Nasr, H Marmouch, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 23 (2020): Issue 1 (June 2020)

Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population

Figures & Tables

Figure 1

Figure 2

Table 1

Table 2

Table 3

Table 4

Table 5

Table 6

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