GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease
Abstract
:1. Introduction
2. Materials and Methods
2.1. Subjects
2.2. DNA Extraction
2.3. Target Gene Primer Design and Multiplex PCR
2.4. Sequencing
2.5. Data Analysis
- (1)
- (2)
- The sequence alignment/map format (BAM) dataset was uploaded in the Galaxy website.
2.6. Statistical Analysis
3. Results
3.1. Comparison of Genotype and Allele Frequencies of GPR174 and ITM2A SNPs on the X chromosome in AITD Patients and Controls
3.2. Comparison of Genotype and Allele Frequencies of GPR174 and ITM2A SNPs on X chromosome in GD Patients with or without TAO and Controls
3.3. Comparison of Genotype and Allele Frequencies of GPR174 and ITM2A SNPs on X chromosome in HD Patients and Controls
3.4. LD and Haplotype Analysis of the Four GPR174 and ITM2A SNPs
4. Discussion
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
References
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AITD (n = 115) | Controls (n = 204) | ||
---|---|---|---|
GD (n = 74) | HD (n = 41) | ||
Females (%) | 52 (70.3%) | 38 (92.7%) | 100 (49.0%) |
Age at enrollment (years) | 14.7 ± 3.6 | 13.4 ± 3.2 | 22.7 ± 3.8 |
Goiter (%) | 62 (83.8%) | 25 (61.0%) | |
T3 at diagnosis, 0.78–1.82 ng/mL | 3.79 ± 2.05 | 1.22 ± 0.55 | n.d. |
Free T4 at diagnosis, 0.85–1.86 ng/dL | 3.17 ± 1.32 | 1.07 ± 0.74 | n.d. |
TSH at diagnosis, 0.17–4.05 mIU/L | 0.06 ± 0.20 | 30.57 ± 48.36 | n.d. |
TSHR Ab positive at diagnosis | 72 (97.3%) | n.d. | |
Tg Ab positive at diagnosis | 32 (78%) | n.d. | |
TPO Ab positive at diagnosis | 36 (87.8%) | n.d. | |
Clinically evident TAO (NOSPECS class II or higher), n (%) | 40 (54.1%) | ||
Remission | 23 (31.1%) |
Gene | RS Number (SNP) | SNP Position (hg19) | Direction | Sequence (5′-3′) | Span a | Specific | |||
---|---|---|---|---|---|---|---|---|---|
Tm | Insert Length | Amplicon Size (bp) | |||||||
PCR1 primer | GPR174 | rs3810712 | 78,426,471 | Forward | ACACTCTTTCCCTACACGACGCTCTTCCGATCT TTG GAA GGA ACA GCA GTT GAT TG | 34 | 63 | 65 | 95 |
Reverse | GTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT ACG TGT AAT TAG CAG GCA TGA TTC TCT CTA | 65 | |||||||
GPR174 | rs3810711 | 78,426,488 | Forward | ACACTCTTTCCCTACACGACGCTCTTCCGATCT TTG GAA GGA ACA GCA GTT GAT TGT GAA TTT A | 34 | 65 | 95 | ||
Reverse | GTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT ACG TGT AAT TAG CAG GCA TGA TTC TCT CTA | 65 | |||||||
GPR174 | rs3827440 | 78,426,988 | Forward | ACACTCTTTCCCTACACGACGCTCTTCCGATCT CCT GTG TAC TCT TTC CAC TCC TCA GAA | 39 | 61 | 97 | ||
Reverse | GTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT GCC AGG TTG ACA TTC CTG GTA GGA AGA TCC A | 66 | |||||||
ITM2A-GPR174 | rs5912838 | 78,497,118 | Forward | ACACTCTTTCCCTACACGACGCTCTTCCGATCT TTC CAC TTC ATG TTA GAT AAA TTT GGA TGT CA | 25 | 66 | 86 | ||
Reverse | GTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT ACT ATG ATC ACA TTT CTC TGG ATA CTT GA | 64 | |||||||
PCR2 Illumina adapters (sequencing) | MiSeq_F | AATGATACGGCGACCACCGAGATCTACAC | - | 59 | - | - | |||
MiSeq_R | CAAGCAGAAGACGGCATACGAGAT |
Controls | AITD (GD and HD) * | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Analysis Type | n = 204 (%) | n = 115 (%) | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | ||||
F100, | M104 | F90, | M25 | |||||||||
GPR174 rs3810712 C>T | F genotype | CC | 28 | (28.0) | 39 | (43.3) | 4.879 | 0.027 | 0.082 | 2.0 | 1.1 | 3.6 |
CT | 48 | (48.0) | 41 | (45.6) | 0.114 | 0.736 | 2.208 | NA | NA | NA | ||
TT | 24 | (24.0) | 10 | (11.1) | 5.356 | 0.021 | 0.062 | 0.4 | 0.2 | 0.9 | ||
Comb Genotype | CC/C | 66 | (32.4) | 55 | (47.8) | 7.479 | 0.006 | 0.019 | 1.9 | 1.2 | 3.1 | |
CT | 48 | (23.5) | 41 | (35.7) | 5.373 | 0.020 | 0.061 | 1.8 | 1.1 | 3.0 | ||
TT/T | 87 | (42.6) | 19 | (16.5) | 22.623 | 0.000 | 0.000 | 0.3 | 0.2 | 0.5 | ||
F Allele | C | 104 | (52.0) | 119 | (66.1) | 7.780 | 0.005 | 0.011 | 1.8 | 1.2 | 2.7 | |
T | 96 | (48.0) | 61 | (33.9) | 7.780 | 0.005 | 0.011 | 0.6 | 0.4 | 0.8 | ||
M Allele | C | 41 | (39.4) | 16 | (64.0) | 4.936 | 0.026 | 0.053 | 2.7 | 1.1 | 6.8 | |
T | 66 | (63.5) | 9 | (36.0) | 6.245 | 0.012 | 0.025 | 0.3 | 0.1 | 0.8 | ||
Comb Allele | C | 145 | (47.7) | 135 | (65.9) | 16.308 | 0.000 | 0.000 | 2.1 | 1.5 | 3.0 | |
T | 162 | (53.3) | 70 | (34.1) | 18.089 | 0.000 | 0.000 | 0.5 | 0.3 | 0.7 | ||
GPR174 rs3810711 T>C | F genotype | TT | 28 | (28.0) | 39 | (43.3) | 4.879 | 0.027 | 0.082 | 2.0 | 1.1 | 3.6 |
TC | 48 | (48.0) | 41 | (45.6) | 0.114 | 0.736 | 2.208 | NA | NA | NA | ||
CC | 24 | (24.0) | 10 | (11.1) | 5.356 | 0.021 | 0.062 | 0.4 | 0.2 | 0.9 | ||
Comb Genotype | TT/T | 66 | (32.4) | 55 | (47.8) | 7.479 | 0.006 | 0.019 | 1.9 | 1.2 | 3.1 | |
TC | 48 | (23.5) | 41 | (35.7) | 5.373 | 0.020 | 0.061 | 1.8 | 1.1 | 3.0 | ||
CC/C | 87 | (42.6) | 19 | (16.5) | 22.623 | 0.000 | 0.000 | 0.3 | 0.2 | 0.5 | ||
F Allele | T | 104 | (52.0) | 119 | (66.1) | 7.780 | 0.005 | 0.011 | 1.8 | 1.2 | 2.7 | |
C | 96 | (48.0) | 61 | (33.9) | 7.780 | 0.005 | 0.011 | 0.6 | 0.4 | 0.8 | ||
M Allele | T | 41 | (39.4) | 16 | (64.0) | 4.936 | 0.026 | 0.053 | 2.7 | 1.1 | 6.8 | |
C | 66 | (63.5) | 9 | (36.0) | 6.245 | 0.012 | 0.025 | 0.3 | 0.1 | 0.8 | ||
Comb Allele | T | 145 | (47.7) | 135 | (65.9) | 16.308 | 0.000 | 0.000 | 2.1 | 1.5 | 3.0 | |
C | 162 | (53.3) | 70 | (34.1) | 18.089 | 0.000 | 0.000 | 0.5 | 0.3 | 0.7 | ||
GPR174 rs3827440 T>C | F genotype | TT | 28 | (28.0) | 39 | (43.3) | 4.879 | 0.027 | 0.082 | 2.0 | 1.1 | 3.6 |
TC | 48 | (48.0) | 41 | (45.6) | 0.114 | 0.736 | 2.208 | NA | NA | NA | ||
CC | 24 | (24.0) | 10 | (11.1) | 5.356 | 0.021 | 0.062 | 0.4 | 0.2 | 0.9 | ||
Comb Genotype | TT/T | 66 | (32.4) | 55 | (47.8) | 7.479 | 0.006 | 0.019 | 1.9 | 1.2 | 3.1 | |
TC | 48 | (23.5) | 41 | (35.7) | 5.373 | 0.020 | 0.061 | 1.8 | 1.1 | 3.0 | ||
CC/C | 87 | (42.6) | 19 | (16.5) | 22.623 | 0.000 | 0.000 | 0.3 | 0.2 | 0.5 | ||
F Allele | T | 104 | (52.0) | 119 | (66.1) | 7.780 | 0.005 | 0.011 | 1.8 | 1.2 | 2.7 | |
C | 96 | (48.0) | 61 | (33.9) | 7.780 | 0.005 | 0.011 | 0.6 | 0.4 | 0.8 | ||
M Allele | T | 41 | (39.4) | 16 | (64.0) | 4.936 | 0.026 | 0.053 | 2.7 | 1.1 | 6.8 | |
C | 66 | (63.5) | 9 | (36.0) | 6.245 | 0.012 | 0.025 | 0.3 | 0.1 | 0.8 | ||
Comb Allele | T | 145 | (47.7) | 135 | (65.9) | 16.308 | 0.000 | 0.000 | 2.1 | 1.5 | 3.0 | |
C | 162 | (53.3) | 70 | (34.1) | 18.089 | 0.000 | 0.000 | 0.5 | 0.3 | 0.7 | ||
ITM2A-GPR174 rs5912838 A>C | F genotype | AA | 29 | (29.0) | 39 | (43.3) | 4.235 | 0.040 | 0.119 | 1.9 | 1.0 | 3.4 |
AC | 44 | (44.0) | 41 | (45.6) | 0.046 | 0.830 | 2.489 | NA | NA | NA | ||
CC | 27 | (27.0) | 10 | (11.1) | 7.626 | 0.006 | 0.017 | 0.3 | 0.2 | 0.7 | ||
Comb Genotype | AA/A | 68 | (33.3) | 55 | (47.8) | 6.520 | 0.011 | 0.032 | 1.8 | 1.1 | 2.9 | |
AC | 44 | (21.6) | 41 | (35.7) | 7.463 | 0.006 | 0.019 | 2.0 | 1.2 | 3.3 | ||
CC/C | 89 | (43.6) | 19 | (16.5) | 24.129 | 0.000 | 0.000 | 0.3 | 0.1 | 0.4 | ||
F Allele | A | 102 | (51.0) | 119 | (66.1) | 8.890 | 0.003 | 0.006 | 1.9 | 1.2 | 2.8 | |
C | 98 | (49.0) | 61 | (33.9) | 8.890 | 0.003 | 0.006 | 0.5 | 0.4 | 0.8 | ||
M Allele | A | 42 | (40.4) | 16 | (64.0) | 4.542 | 0.033 | 0.066 | 2.6 | 1.1 | 6.5 | |
C | 65 | (62.5) | 9 | (36.0) | 5.787 | 0.016 | 0.032 | 0.34 | 0.1 | 0.8 | ||
Comb Allele | A | 144 | (47.4) | 135 | (65.9) | 16.891 | 0.000 | 0.000 | 2.1 | 1.5 | 3.1 | |
C | 163 | (53.6) | 70 | (34.1) | 18.703 | 0.000 | 0.000 | 0.4 | 0.3 | 0.6 |
Controls | GD | GD_TAO | GD_w/o TAO | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genotype Analysis | Total n = 204 | Total n = 74 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | Total n = 40 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | Total n = 34 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | ||||||
F100 M104 (%) | F52 M22 (%) | F27 M13 (%) | F25 M9 (%) | |||||||||||||||||||||||||
GPR174 rs3810712 C>T | F | CC | 28 | (28.0) | 26 | (50.0) | 7.229 | 0.007 | 0.022 | 2.6 | 1.3 | 5.2 | 12 | (44.4) | 2.665 | 0.103 | 0.308 | NA | NA | NA | 14 | (56.0) | 7.028 | 0.008 | 0.024 | 3.3 | 1.3 | 8.1 |
CT | 48 | (48.0) | 24 | (46.2) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (51.9) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (40.0) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
TT | 24 | (24.0) | 2 | (3.8) | 9.800 | 0.002 | 0.005 | 0.1 | 0.0 | 0.6 | 1 | (3.7) | 5.539 | 0.019 | 0.056 | 0.1 | 0.0 | 0.9 | 1 | (4.0) | 5.000 | 0.025 | 0.076 | 0.1 | 0.0 | 1.0 | ||
Comb | CC/C | 66 | (32.4) | 39 | (52.7) | 9.567 | 0.002 | 0.006 | 2.3 | 1.4 | 4.0 | 19 | (47.5) | 3.380 | 0.066 | 0.198 | NA | NA | NA | 20 | (58.8) | 8.849 | 0.003 | 0.009 | 3.0 | 1.4 | 6.3 | |
TC | 48 | (23.5) | 24 | (32.4) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (35.0) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (29.4) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
TT/T | 87 | (42.6) | 11 | (14.9) | 18.841 | 0.000 | 0.000 | 0.2 | 0.1 | 0.5 | 7 | (17.5) | 8.930 | 0.003 | 0.008 | 0.3 | 0.1 | 0.7 | 4 | (11.8) | 11.769 | 0.001 | 0.002 | 0.2 | 0.1 | 0.5 | ||
GPR174 rs3810711 T>C | F | TT | 28 | (28.0) | 26 | (50.0) | 7.229 | 0.007 | 0.022 | 2.6 | 1.3 | 5.2 | 12 | (44.4) | 2.665 | 0.103 | 0.308 | NA | NA | NA | 14 | (56.0) | 7.028 | 0.008 | 0.024 | 3.3 | 1.3 | 8.1 |
TC | 48 | (48.0) | 24 | (46.2) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (51.9) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (40.0) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
CC | 24 | (24.0) | 2 | (3.8) | 9.800 | 0.002 | 0.005 | 0.1 | 0.0 | 0.6 | 1 | (3.7) | 5.539 | 0.019 | 0.056 | 0.1 | 0.0 | 0.9 | 1 | (4.0) | 5.000 | 0.025 | 0.076 | 0.1 | 0.0 | 1.0 | ||
Comb | TT/T | 66 | (32.4) | 39 | (52.7) | 9.567 | 0.002 | 0.006 | 2.3 | 1.4 | 4.0 | 19 | (47.5) | 3.380 | 0.066 | 0.198 | NA | NA | NA | 20 | (58.8) | 8.849 | 0.003 | 0.009 | 3.0 | 1.4 | 6.3 | |
TC | 48 | (23.5) | 24 | (32.4) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (35.0) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (29.4) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
CC/C | 87 | (42.6) | 11 | (14.9) | 18.841 | 0.000 | 0.000 | 0.2 | 0.1 | 0.5 | 7 | (17.5) | 8.930 | 0.003 | 0.008 | 0.3 | 0.1 | 0.7 | 4 | (11.8) | 11.769 | 0.001 | 0.002 | 0.2 | 0.1 | 0.5 | ||
GPR174 rs3827440 T>C | F | TT | 28 | (28.0) | 26 | (50.0) | 7.229 | 0.007 | 0.022 | 2.6 | 1.3 | 5.2 | 12 | (44.4) | 2.665 | 0.103 | 0.308 | NA | NA | NA | 14 | (56.0) | 7.028 | 0.008 | 0.024 | 3.3 | 1.3 | 8.1 |
TC | 48 | (48.0) | 24 | (46.2) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (51.9) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (40.0) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
CC | 24 | (24.0) | 2 | (3.8) | 9.800 | 0.002 | 0.005 | 0.1 | 0.0 | 0.6 | 1 | (3.7) | 5.539 | 0.019 | 0.056 | 0.1 | 0.0 | 0.9 | 1 | (4.0) | 5.000 | 0.025 | 0.076 | 0.1 | 0.0 | 1.0 | ||
Comb | TT/T | 66 | (32.4) | 39 | (52.7) | 9.567 | 0.002 | 0.006 | 2.3 | 1.4 | 4.0 | 19 | (47.5) | 3.380 | 0.066 | 0.198 | NA | NA | NA | 20 | (58.8) | 8.849 | 0.003 | 0.009 | 3.0 | 1.4 | 6.3 | |
TC | 48 | (23.5) | 24 | (32.4) | 0.047 | 0.829 | 2.486 | NA | NA | NA | 14 | (35.0) | 0.126 | 0.722 | 2.167 | NA | NA | NA | 10 | (29.4) | 0.515 | 0.473 | 1.419 | NA | NA | NA | ||
CC/C | 87 | (42.6) | 11 | (14.9) | 18.841 | 0.000 | 0.000 | 0.2 | 0.1 | 0.5 | 7 | (17.5) | 8.930 | 0.003 | 0.008 | 0.3 | 0.1 | 0.7 | 4 | (11.8) | 11.769 | 0.001 | 0.002 | 0.2 | 0.1 | 0.5 | ||
ITM2A-GPR174 rs5912838 A>C | F | AA | 29 | (29.0) | 26 | (50.0) | 6.534 | 0.011 | 0.032 | 2.4 | 1.2 | 4.9 | 12 | (44.4 | 2.320 | 0.128 | 0.383 | NA | NA | NA | 14 | (56.0) | 6.461 | 0.011 | 0.033 | 3.1 | 1.3 | 7.7 |
AC | 44 | (44.0) | 24 | (46.2) | 0.064 | 0.800 | 2.400 | NA | NA | NA | 14 | (51.9 | 0.528 | 0.467 | 1.402 | NA | NA | NA | 10 | (40.0) | 0.130 | 0.718 | 2.154 | NA | NA | NA | ||
CC | 27 | (27.0) | 2 | (3.8) | 11.879 | 0.001 | 0.002 | 0.1 | 0.0 | 0.5 | 1 | (3.7) | 6.713 | 0.010 | 0.029 | 0.1 | 0.0 | 0.8 | 1 | (4.0) | 6.087 | 0.014 | 0.041 | 0.1 | 0.0 | 0.9 | ||
Comb | AA/A | 68 | (33.3) | 39 | (52.7) | 8.605 | 0.003 | 0.010 | 2.2 | 1.3 | 3.8 | 19 | (47.5) | 2.925 | 0.087 | 0.262 | NA | NA | NA | 20 | (58.8) | 8.126 | 0.004 | 0.013 | 2.9 | 1.4 | 6.0 | |
AC | 44 | (21.6) | 24 | (32.4) | 0.064 | 0.800 | 2.400 | NA | NA | NA | 14 | (35.0) | 0.528 | 0.467 | 1.402 | NA | NA | NA | 10 | (29.4) | 0.130 | 0.718 | 2.154 | NA | NA | NA | ||
CC/C | 89 | (43.6) | 11 | (14.9) | 19.505 | 0.000 | 0.000 | 0.2 | 0.1 | 0.5 | 7 | (17.5) | 9.566 | 0.002 | 0.006 | 0.3 | 0.1 | 0.6 | 4 | (11.8) | 12.428 | 0.000 | 0.001 | 0.2 | 0.1 | 0.5 |
Controls | GD | GD_TAO | GD_w/o TAO | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total n = 204 | Total n = 74 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | Total n = 40 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | Total n = 34 | χ2 | p-Value | Pc | OR | 95CI (Low) | 95CI (High) | |||||||
Allele | F100 M104 (%) | F52 M22 (%) | F27 M13 (%) | F25 M9 (%) | ||||||||||||||||||||||||
GPR174 rs3810712 C>T | F | C | 104 | (52.0) | 76 | (73.1) | 12.585 | 0.000 | 0.001 | 2.5 | 1.5 | 4.2 | 38 | (70.4) | 5.821 | 0.016 | 0.032 | 2.2 | 1.1 | 4.2 | 38 | (76.0) | 9.390 | 0.002 | 0.004 | 2.9 | 1.4 | 5.9 |
T | 96 | (48.0) | 28 | (26.9) | 12.585 | 0.000 | 0.001 | 0.4 | 0.2 | 0.7 | 16 | (29.6) | 5.821 | 0.016 | 0.032 | 0.5 | 0.2 | 0.9 | 12 | (24.0) | 9.390 | 0.002 | 0.004 | 0.3 | 0.2 | 0.7 | ||
M | C | 41 | (39.4) | 13 | (59.1) | 2.868 | 0.090 | 0.181 | NA | NA | NA | 7 | (53.8) | 0.994 | 0.319 | 0.638 | NA | NA | NA | 6 | (66.7) | 2.531 | 0.112 | 0.223 | NA | NA | NA | |
T | 66 | (63.5) | 9 | (40.9) | 3.833 | 0.050 | 0.100 | NA | NA | NA | 6 | (46.2) | 1.463 | 0.227 | 0.453 | NA | NA | NA | 3 | (33.3) | 3.162 | 0.075 | 0.151 | NA | NA | NA | ||
Comb | C | 145 | (47.7) | 89 | (70.6) | 18.894 | 0.000 | 0.000 | 2.6 | 1.7 | 4.1 | 45 | (67.2) | 8.327 | 0.004 | 0.008 | 2.2 | 1.3 | 3.9 | 44 | (74.6) | 14.304 | 0.000 | 0.000 | 3.2 | 1.7 | 6.0 | |
T | 162 | (53.3) | 37 | (29.4) | 20.508 | 0.000 | 0.000 | 0.4 | 0.2 | 0.6 | 22 | (32.8) | 9.188 | 0.002 | 0.005 | 0.4 | 0.2 | 0.7 | 15 | (25.4) | 15.356 | 0.000 | 0.000 | 0.3 | 0.2 | 0.6 | ||
GPR174 rs3810711 T>C | F | T | 104 | (52.0) | 76 | (73.1) | 12.585 | 0.000 | 0.001 | 2.5 | 1.5 | 4.2 | 38 | (70.4) | 5.821 | 0.016 | 0.032 | 2.2 | 1.1 | 4.2 | 38 | (76.0) | 9.390 | 0.002 | 0.004 | 2.9 | 1.4 | 5.9 |
C | 96 | (48.0) | 28 | (26.9) | 12.585 | 0.000 | 0.001 | 0.4 | 0.2 | 0.7 | 16 | (29.6) | 5.821 | 0.016 | 0.032 | 0.5 | 0.2 | 0.9 | 12 | (24.0) | 9.390 | 0.002 | 0.004 | 0.3 | 0.2 | 0.7 | ||
M | T | 41 | (39.4) | 13 | (59.1) | 2.868 | 0.090 | 0.181 | NA | NA | NA | 7 | (53.8) | 0.994 | 0.319 | 0.638 | NA | NA | NA | 6 | (66.7) | 2.531 | 0.112 | 0.223 | NA | NA | NA | |
C | 66 | (63.5) | 9 | (40.9) | 3.833 | 0.050 | 0.100 | NA | NA | NA | 6 | (46.2) | 1.463 | 0.227 | 0.453 | NA | NA | NA | 3 | (33.3) | 3.162 | 0.075 | 0.151 | NA | NA | NA | ||
Comb | T | 145 | (47.7) | 89 | (70.6) | 18.894 | 0.000 | 0.000 | 2.6 | 1.7 | 4.1 | 45 | (67.2) | 8.327 | 0.004 | 0.008 | 2.2 | 1.3 | 3.9 | 44 | (74.6) | 14.304 | 0.000 | 0.000 | 3.2 | 1.7 | 6.0 | |
C | 162 | (53.3) | 37 | (29.4) | 20.508 | 0.000 | 0.000 | 0.4 | 0.2 | 0.6 | 22 | (32.8) | 9.188 | 0.002 | 0.005 | 0.4 | 0.2 | 0.7 | 15 | (25.4) | 15.356 | 0.000 | 0.000 | 0.3 | 0.2 | 0.6 | ||
GPR174 rs3827440 T>C | F | T | 104 | (52.0) | 76 | (73.1) | 12.585 | 0.000 | 0.001 | 2.5 | 1.5 | 4.2 | 38 | (70.4) | 5.821 | 0.016 | 0.032 | 2.2 | 1.1 | 4.2 | 38 | (76.0) | 9.390 | 0.002 | 0.004 | 2.9 | 1.4 | 5.9 |
C | 96 | (48.0) | 28 | (26.9) | 12.585 | 0.000 | 0.001 | 0.4 | 0.2 | 0.7 | 16 | (29.6) | 5.821 | 0.016 | 0.032 | 0.5 | 0.2 | 0.9 | 12 | (24.0) | 9.390 | 0.002 | 0.004 | 0.3 | 0.2 | 0.7 | ||
M | T | 41 | (39.4) | 13 | (59.1) | 2.868 | 0.090 | 0.181 | NA | NA | NA | 7 | (53.8) | 0.994 | 0.319 | 0.638 | NA | NA | NA | 6 | (66.7) | 2.531 | 0.112 | 0.223 | NA | NA | NA | |
C | 66 | (63.5) | 9 | (40.9) | 3.833 | 0.050 | 0.100 | NA | NA | NA | 6 | (46.2) | 1.463 | 0.227 | 0.453 | NA | NA | NA | 3 | (33.3) | 3.162 | 0.075 | 0.151 | NA | NA | NA | ||
Comb | T | 145 | (47.7) | 89 | (70.6) | 18.894 | 0.000 | 0.000 | 2.6 | 1.7 | 4.1 | 45 | (67.2) | 8.327 | 0.004 | 0.008 | 2.2 | 1.3 | 3.9 | 44 | (74.6) | 14.304 | 0.000 | 0.000 | 3.2 | 1.7 | 6.0 | |
C | 162 | (53.3) | 37 | (29.4) | 20.508 | 0.000 | 0.000 | 0.4 | 0.2 | 0.6 | 22 | (32.8) | 9.188 | 0.002 | 0.005 | 0.4 | 0.2 | 0.7 | 15 | (25.4) | 15.356 | 0.000 | 0.000 | 0.3 | 0.2 | 0.6 | ||
ITM2A-GPR174 rs5912838 A>C | F | A | 102 | (51.0) | 76 | (73.1) | 13.741 | 0.000 | 0.000 | 2.6 | 1.6 | 4.4 | 38 | (70.4) | 6.449 | 0.011 | 0.022 | 2.3 | 1.2 | 4.4 | 38 | (76.0) | 10.146 | 0.001 | 0.003 | 3.0 | 1.5 | 6.2 |
C | 98 | (49.0) | 28 | (26.9) | 13.741 | 0.000 | 0.000 | 0.4 | 0.2 | 0.6 | 16 | (29.6) | 6.449 | 0.011 | 0.022 | 0.4 | 0.2 | 0.8 | 12 | (24.0) | 10.146 | 0.001 | 0.003 | 0.3 | 0.2 | 0.7 | ||
M | A | 42 | (40.4) | 13 | (59.1) | 2.583 | 0.108 | 0.216 | NA | NA | NA | 7 | (53.8) | 0.860 | 0.354 | 0.707 | NA | NA | NA | 6 | (66.7) | 2.342 | 0.126 | 0.252 | NA | NA | NA | |
C | 65 | (62.5) | 9 | (40.9) | 3.492 | 0.062 | 0.123 | NA | NA | NA | 6 | (46.2) | 1.294 | 0.255 | 0.511 | NA | NA | NA | 3 | (33.3) | 2.940 | 0.086 | 0.173 | NA | NA | NA | ||
Comb | A | 144 | (47.4) | 89 | (70.6) | 19.425 | 0.000 | 0.000 | 2.7 | 1.7 | 4.2 | 45 | (67.2) | 8.609 | 0.003 | 0.007 | 2.3 | 1.3 | 4.0 | 44 | (74.6) | 14.650 | 0.000 | 0.000 | 3.3 | 1.7 | 6.1 | |
C | 163 | (53.6) | 37 | (29.4) | 21.062 | 0.000 | 0.000 | 0.4 | 0.2 | 0.6 | 22 | (32.8) | 9.485 | 0.002 | 0.004 | 0.4 | 0.2 | 0.7 | 15 | (25.4) | 15.717 | 0.000 | 0.000 | 0.3 | 0.2 | 0.6 |
Haplotype | Freq. | Case, Control Ratio Counts | Case, Control Frequencies | Chi Square | p-Value | ||
---|---|---|---|---|---|---|---|
AITD | Control | AITD | Control | ||||
+ #x2003;- | +#x2003;#x2003;- | ||||||
CTTA | 0.537 | 135.0:70.0 | 137.0:164.0 | 0.658 | 0.455 | 20.29 | 0.000 |
TCCC | 0.445 | 70.0:135.0 | 155.0:146.0 | 0.341 | 0.515 | 14.87 | 0.000 |
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Cho, W.K.; Shin, H.-R.; Lee, N.Y.; Kim, S.K.; Ahn, M.B.; Baek, I.-C.; Kim, T.-G.; Suh, B.-K. GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease. Genes 2020, 11, 858. https://doi.org/10.3390/genes11080858
Cho WK, Shin H-R, Lee NY, Kim SK, Ahn MB, Baek I-C, Kim T-G, Suh B-K. GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease. Genes. 2020; 11(8):858. https://doi.org/10.3390/genes11080858
Chicago/Turabian StyleCho, Won Kyoung, Hye-Ri Shin, Na Yeong Lee, Seul Ki Kim, Moon Bae Ahn, In-Cheol Baek, Tai-Gyu Kim, and Byung-Kyu Suh. 2020. "GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease" Genes 11, no. 8: 858. https://doi.org/10.3390/genes11080858