Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Population
2.2. Measurement of Hearing
2.3. Genotyping
2.4. Statistical Analysis
3. Results
3.1. Basic Characteristics of the Study Population
3.2. Frequencies of the Genotypes and Alleles of the Mutations in the GJB2 Gene
3.3. Distribution of Audiogram Shapes for the Different Genotypes of rs72474224 (c.109G>A) and rs80338943 (c.235delC)
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
References
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Characteristic | Total (n = 9910) |
---|---|
Age, mean (SD), years | 67.2 (7.6) |
Age group (%) | |
<60 | 1548 (15.6) |
60–69 | 4765 (48.1) |
70–79 | 3054 (30.8) |
≥80 | 543 (5.5) |
Gender (%) | |
Female | 5197 (52.4) |
Male | 4713 (47.6) |
Severity of hearing loss (%) | |
Normal | 4168 (42.1) |
Mild | 3806 (38.4) |
Moderate | 1581 (16.0) |
Severe-profound | 355 (3.6) |
SNPs | Nucleotide Change | Protein Change | Clinical Significance | Overall (n = 9910) | Hearing Loss | p Value | |
---|---|---|---|---|---|---|---|
Control Group (n = 4168) | Patients Group (n = 5742) | ||||||
rs111033222 | c.11G>A | p.G4D | Conflicting | ||||
Genotype | C/C | 9854 (99.4) | 4143 (99.4) | 5711 (99.5) | 0.797 a | ||
T/C | 56 (0.6) | 25 (0.6) | 31 (0.5) | ||||
Allele | C | 19,764 (99.7) | 8311 (99.7) | 11,453 (99.7) | 0.797 a | ||
T | 56 (0.3) | 25 (0.3) | 31 (0.3) | ||||
rs2274084 | c.79G>A | p.V27I | Benign | ||||
Genotype | C/C | 4391 (44.3) | 1854 (44.5) | 2537 (44.2) | 0.680 a | ||
T/C | 4518 (45.6) | 1906 (45.7) | 2612 (45.5) | ||||
T/T | 1001 (10.1) | 408 (9.8) | 593 (10.3) | ||||
Allele | C | 13,300 (67.1) | 5614 (67.3) | 7686 (66.9) | 0.546 a | ||
T | 6520 (32.9) | 2723 (32.7) | 3798 (33.1) | ||||
rs3751385 | c.*84T>C | - | Benign | ||||
Genotype | A/A | 2157 (21.8) | 850 (20.4) | 1307 (22.8) | 0.017a | ||
A/G | 4985 (50.3) | 2142 (51.4) | 2843 (49.5) | ||||
G/G | 2768 (27.9) | 1176 (28.2) | 1592 (27.7) | ||||
Allele | A | 9299 (46.9) | 3842 (46.1) | 5457 (47.5) | 0.048 a | ||
G | 10,521 (53.1) | 4494 (53.9) | 6027 (52.5) | ||||
rs72474224 | c.109G>A | p.V37I | Pathogenic | ||||
Genotype | C/C | 8718 (88.0) | 3674 (88.1) | 5044 (87.8) | <0.001 b | ||
T/C | 1161 (11.7) | 491 (11.8) | 670 (11.7) | ||||
T/T | 31 (0.3) | 3 (0.1) | 28 (0.5) | ||||
Allele | C | 18,597 (93.8) | 7839 (94.0) | 10,758 (93.7) | 0.313 a | ||
T | 1223 (6.2) | 497 (6.0) | 726 (6.3) | ||||
rs80338943 | c.235delC | p.Leu79fs | Pathogenic | ||||
Genotype | AG/AG | 9665 (97.5) | 4078 (97.8) | 5587 (97.3) | 0.118 b | ||
A/AG | 243 (2.5) | 90 (2.2) | 153 (2.7) | ||||
A/A | 2 (0.02) | 0 (0.0) | 2 (0.03) | ||||
Allele | AG | 19,573 (98.8) | 8246 (98.9) | 11,327 (98.6) | 0.083 a | ||
A | 247 (1.2) | 90 (1.1) | 157 (1.4) | ||||
rs2274083 | c.341A>G | p.E114G | Benign/Likely benign | ||||
Genotype | T/T | 5284 (53.3) | 2249 (54.0) | 3035 (52.9) | 0.423 a | ||
C/T | 4025 (40.6) | 1678 (40.3) | 2347 (40.9) | ||||
C/C | 601 (6.1) | 241 (5.8) | 360 (6.3) | ||||
Allele | T | 14,593 (73.6) | 6176 (74.1) | 8417 (73.3) | 0.216 a | ||
C | 5227 (26.3) | 2160 (25.9) | 3067 (26.7) | ||||
rs111033188 | c.368C>A | p.T123N | Benign/Likely benign | ||||
Genotype | G/G | 9828 (99.2) | 4134 (99.2) | 5694 (99.2) | 0.965 b | ||
T/G | 80 (0.8) | 33 (0.8) | 47 (0.8) | ||||
T/T | 2 (0.02) | 1 (0.02) | 1 (0.02) | ||||
Allele | G | 19,736 (99.6) | 8301 (99.6) | 11,435 (9.6) | 0.942 a | ||
T | 84 (0.4) | 35 (0.4) | 49 (0.4) | ||||
rs397516878 | c.571T>C | p.F191L | Uncertain | ||||
Genotype | A/A | 9899 (99.9) | 4163 (99.9) | 5736 (99.9) | 0.871 b | ||
A/G | 11 (0.1) | 5 (0.1) | 6 (0.1) | ||||
Allele | A | 19,809 (99.9) | 8331 (99.9) | 11,478 (99.95) | 0.871 b | ||
G | 11 (0.1) | 5 (0.1) | 6 (0.05) | ||||
rs76838169 | c.608T>C | p.I203T | Benign | ||||
Genotype | A/A | 9298 (93.8) | 3929 (94.3) | 5369 (93.5) | 0.289 a | ||
A/G | 598 (6.0) | 234 (5.6) | 364 (6.3) | ||||
G/G | 14 (0.1) | 5 (0.1) | 9 (0.2) | ||||
Allele | A | 19,194 (96.8) | 8092 (97.1) | 11,102 (96.7) | 0.122 a | ||
G | 626 (3.2) | 244 (2.9) | 382 (3.3) |
Hearing Loss | Medical ID | Age (Years) | Gender | Better Ear (dB) | |||||
---|---|---|---|---|---|---|---|---|---|
0.5 kHz | 1 kHz | 2 kHz | 4 kHz | 8 kHz | PTA 0.5–4 kHz | ||||
Normal | 106846 | 58 | Female | 15 | 15 | 5 | 10 | 10 | 11.25 |
Normal | 105802 | 59 | Female | 15 | 5 | 25 | 40 | 60 | 21.25 |
Normal | 90678 | 68 | Male | 25 | 15 | 20 | 25 | 30 | 21.25 |
Mild | 78353 | 60 | Male | 20 | 25 | 25 | 40 | 65 | 27.5 |
Mild | 70091 | 61 | Female | 25 | 25 | 20 | 50 | 45 | 30 |
Mild | 70740 | 61 | Female | 30 | 30 | 30 | 40 | 50 | 32.5 |
Mild | 11011 | 63 | Female | 15 | 15 | 50 | 50 | 70 | 32.5 |
Mild | 4888 | 64 | Female | 25 | 30 | 40 | 45 | 75 | 35 |
Mild | 60195 | 64 | Female | 25 | 20 | 30 | 40 | 70 | 28.75 |
Mild | 107326 | 64 | Female | 25 | 30 | 35 | 55 | 65 | 36.25 |
Mild | 54382 | 66 | Male | 20 | 30 | 40 | 45 | 95 | 33.75 |
Mild | 101181 | 66 | Male | 30 | 35 | 35 | 40 | 65 | 35 |
Mild | 11321 | 67 | Male | 20 | 30 | 35 | 60 | 85 | 36.25 |
Mild | 67746 | 69 | Female | 25 | 25 | 25 | 45 | 90 | 30 |
Mild | 39311 | 71 | Male | 15 | 15 | 30 | 60 | 25 | 30 |
Mild | 59571 | 74 | Female | 15 | 15 | 40 | 60 | 70 | 32.5 |
Mild | 53680 | 76 | Male | 20 | 20 | 30 | 35 | 90 | 26.25 |
Moderate | 54632 | 56 | Female | 35 | 35 | 35 | 60 | 90 | 41.25 |
Moderate | 79049 | 61 | Female | 35 | 40 | 50 | 45 | 55 | 42.5 |
Moderate | 16099 | 67 | Male | 20 | 30 | 60 | 70 | 85 | 45 |
Moderate | 28532 | 67 | Male | 35 | 35 | 60 | 70 | 80 | 50 |
Moderate | 90158 | 68 | Male | 40 | 50 | 50 | 65 | 55 | 51.25 |
Moderate | 94371 | 68 | Male | 30 | 45 | 65 | 75 | 100 | 53.75 |
Moderate | 42832 | 77 | Male | 15 | 30 | 60 | 70 | 90 | 43.75 |
Moderate | 100741 | 77 | Female | 20 | 40 | 55 | 50 | 80 | 41.25 |
Moderate | 116341 | 78 | Male | 40 | 40 | 50 | 60 | 85 | 47.5 |
Moderate | 107144 | 79 | Male | 20 | 25 | 55 | 70 | 90 | 42.5 |
Moderate | 5826 | 80 | Male | 40 | 50 | 65 | 85 | 90 | 60 |
Severe | 56456 | 64 | Male | 50 | 55 | 65 | 90 | 110 | 65 |
Severe | 115724 | 73 | Male | 60 | 70 | 70 | 75 | 110 | 68.75 |
Severe | 93245 | 74 | Male | 60 | 60 | 70 | 70 | 100 | 65 |
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Yuan, L.; Wang, X.; Liu, X.; Chen, S.; Kong, W.; He, M.; Sun, Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes 2023, 14, 2007. https://doi.org/10.3390/genes14112007
Yuan L, Wang X, Liu X, Chen S, Kong W, He M, Sun Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes. 2023; 14(11):2007. https://doi.org/10.3390/genes14112007
Chicago/Turabian StyleYuan, Lanlai, Xiaohui Wang, Xiaozhou Liu, Sen Chen, Weijia Kong, Meian He, and Yu Sun. 2023. "Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort" Genes 14, no. 11: 2007. https://doi.org/10.3390/genes14112007