Functional Polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population
Abstract
:Background
Methods
Results
Conclusion
1. Introduction
2. Results
2.1. Distribution of ABCG2 Genotypes
2.2. Haplotype Analysis
2.3. Association Analysis of ABCG2 Genotype Combinations in Gout Patients
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. Genotyping ABCG2 with HRM
4.3. Sequencing
4.4. Statistical Analysis
5. Conclusions
Acknowledgments
Conflicts of Interest
- Author ContributionsHejian Zou and Ming Guan designed the experiments and wrote manuscript. Danqiu Zhou, Yunqing Liu, Xinju Zhang, Hua Wang and Xiaoye Gu did the experiments, Xinhua Luo and Jin Zhang analyzed the data.
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SNP | Genotype * | Allele Frequency Mode | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Case | Control | p-Value | p-Value | OR | 95% CI | |||||||
1/1 | 1/2 | 2/2 | MAF | 1/1 | 1/2 | 2/2 | MAF | |||||
Q141K | 84 | 181 | 87 | 0.496 | 33 | 150 | 167 | 0.309 | 1.18 × 10−11 | 8.99 × 10−13 | 2.20 | 1.77–2.74 |
Q126X | 0 | 33 | 319 | 0.047 | 0 | 12 | 338 | 0.017 | 1.31 × 10−3 | 1.57 × 10−3 | 2.91 | 1.49–5.68 |
V12M | 16 | 97 | 239 | 0.183 | 35 | 133 | 182 | 0.290 | 3.67 × 10−5 | 2.55 × 10−6 | 0.55 | 0.43–0.71 |
Allele | Frequency | p-Value | OR | 95% CI | |||
---|---|---|---|---|---|---|---|
V12M | Q126X | Q141K | Gout | Control | |||
G | C | A | 0.481 | 0.289 | 1.26 × 10−13 | 2.30 | 1.84–2.87 |
G | T | C | 0.044 | 0.017 | 2.97 × 10−3 | 2.71 | 1.37–5.36 |
G | C | C | 0.292 | 0.404 | 8.27 × 10−6 | 0.60 | 0.48–0.75 |
A | C | C | 0.165 | 0.271 | 1.53 × 10−6 | 0.53 | 0.41–0.69 |
Estimated Function | Genotype Combination | Number (%) | p-Value | OR | 95% CI | ||
---|---|---|---|---|---|---|---|
Q141K | Q126X | Gout | Control | ||||
≤1/4 function | C/A | T/C | 22 (6.2) | 8 (2.3) | 8.47 × 10−6 | 5.90 | 2.56–13.58 |
1/2 function | C/C | T/C | 95 (27.0) | 37 (10.5) | 1.12 × 10−13 | 5.51 | 3.46–8.77 |
A/A | C/C | ||||||
3/4 function | C/A | C/C | 159 (45.2) | 142 (40.6) | 1.00 × 10−6 | 2.40 | 1.69–3.42 |
Full function | C/C | C/C | 76 (21.6) | 163 (46.6) | — | — |
Index | Gout Patients | Controls | p-Value |
---|---|---|---|
Subjects (%) | 352 (50.1%) | 350 (49.9%) | |
Age (year) | 57.6 ± 14.0 | 56.6 ± 16.6 | NS |
BUN (mmol/L) | 5.4 ± 1.9 | 5.5 ± 2.1 | NS |
Creatinine (μmol/L) | 97.3 ± 15.7 | 96.1 ± 16.4 | NS |
Uric Acid (μmol/L) | 456.4 ± 120.1 | 334.7 ± 88.7 | <0.01 |
SNP ID | SNP Allele | Sequence (5′-3′) | Size |
---|---|---|---|
V12M | A/G | ATGGTATGGGCCATTCATTG ATGCCTTCAGGTCATTGGAA | 250 bp |
Q141K | A/C | ATGTTGTGATGGGCACTCTG CCACATTACCTTGGAGTCTG | 158 bp |
Q126X | C/T | GCTGCAAGGAAAGATCCAAG CAGCCAAAGCACTTACCCAT | 163 bp |
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Zhou, D.; Liu, Y.; Zhang, X.; Gu, X.; Wang, H.; Luo, X.; Zhang, J.; Zou, H.; Guan, M. Functional Polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population. Int. J. Mol. Sci. 2014, 15, 9149-9159. https://doi.org/10.3390/ijms15059149
Zhou D, Liu Y, Zhang X, Gu X, Wang H, Luo X, Zhang J, Zou H, Guan M. Functional Polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population. International Journal of Molecular Sciences. 2014; 15(5):9149-9159. https://doi.org/10.3390/ijms15059149
Chicago/Turabian StyleZhou, Danqiu, Yunqing Liu, Xinju Zhang, Xiaoye Gu, Hua Wang, Xinhua Luo, Jin Zhang, Hejian Zou, and Ming Guan. 2014. "Functional Polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population" International Journal of Molecular Sciences 15, no. 5: 9149-9159. https://doi.org/10.3390/ijms15059149