Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. Cohort
4.2. Blood Samples and DNA Isolation
4.3. Determination of the FCN2 Gene Polymorphisms
4.4. Determination of Ficolin-2 Concentration in Cord Sera
4.5. Statistical Analysis
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Polymorphism | Genotype | N | % | MAF |
---|---|---|---|---|
rs3124952 −986 A > G | A/A | 165 | 32.9 | 0.386 |
A/G | 265 | 52.9 | ||
G/G | 61 | 12.2 | ||
rs3124953 −602 G > A | G/G | 314 | 62.7 | 0.204 |
G/A | 170 | 33.9 | ||
A/A | 17 | 3.4 | ||
rs7865453 −64 A > C | A/A | 390 | 77.8 | 0.115 |
A/C | 107 | 21.4 | ||
C/C | 4 | 0.8 | ||
rs17514136 −4 A > G | A/A | 204 | 40.7 | 0.347 |
A/G | 243 | 48.5 | ||
G/G | 51 | 10.2 |
Polymorphism | Genotype | Gestational Age (Weeks) | Birthweight (g) | ||
---|---|---|---|---|---|
<33 | ≥33 | ≤1500 | >1500 | ||
N (%) | N (%) | N (%) | N (%) | ||
rs3124952 −986 A > G | A/A | 32 (30.5) | 143 (36.1) | 7 (12.7) 2 | 168 (37.9) |
A/G | 61 (58.1) | 204 (51.5) | 39 (70.9) | 223 (50.3) | |
G/G | 12 (11.4) | 49 (12.4) | 9 (16.4) | 52 (11.7) | |
rs3124953 −602 G > A | G/G | 69 (65.7) | 245 (61.9) | 35 (63.6) | 276 (62.3) |
G/A | 32 (30.5) | 138 (34.8) | 20 (36.4) | 150 (33.9) | |
A/A | 4 (5.8) | 13 (3.3) | 0 (0) | 17 (3.8) | |
rs7865453 −64 A > C | A/A | 83 (79) | 307 (77.5) | 36 (65.5) 3 | 352 (79.5) |
A/C | 22 (21) | 85 (21.5) | 18 (32.7) | 88 (19.9) | |
C/C | 0 (0) | 4 (1) | 1 (1.8) | 3 (0.7) | |
rs17514136 −4 A > G | A/A | 38 (36.2) | 166 (41.9) | 26 (47.3) | 177 (40) |
A/G | 62 (59) | 184 (46.5) | 29 (52.7) | 215 (48.5) | |
G/G | 5 (4.8) 1 | 46 (11.6) | 0 (0) 4 | 51 (11.5) |
Haplotype | N | Frequency |
---|---|---|
AGAG | 307 | 0.306 |
GGAA | 244 | 0.244 |
AAAA | 192 | 0.192 |
AGAA | 99 | 0.099 |
GGCA | 98 | 0.098 |
GGAG | 41 | 0.041 |
AGCA | 6 | 0.006 |
AACA | 5 | 0.005 |
GACA | 4 | 0.004 |
GAAA | 4 | 0.004 |
AGCG | 2 | 0.002 |
Haplotype | Gestational Age (Weeks) | Birthweight (g) | ||||||
---|---|---|---|---|---|---|---|---|
<33 | ≥33 | ≤1500 | >1500 | |||||
N | Frequency 1 | N | Frequency 1 | N | Frequency 1 | N | Frequency 1 | |
AGAG | 65 | 0.31 | 242 | 0.306 | 24 2 | 0.218 | 281 | 0.317 |
GGAA | 57 | 0.271 | 187 | 0.236 | 35 | 0.318 | 207 | 0.234 |
AAAA | 38 | 0.181 | 154 | 0.194 | 18 | 0.164 | 174 | 0.196 |
AGAA | 20 | 0.095 | 79 | 0.1 | 7 | 0.064 | 91 | 0.103 |
GGCA | 19 | 0.09 | 79 | 0.1 | 18 3 | 0.164 | 79 | 0.089 |
Diplotype | N | % | Ficolin-2 Concentration (ng/mL) | ||
---|---|---|---|---|---|
Median | Range (n) | ||||
1 | AGAG/GGAA | 94 | 18.8 | 1761 | 237–5068 (80) |
2 | AGAG/AAAA | 60 | 12 | 2748 | 481–5235 (56) |
3 | AAAA/GGAA | 46 | 9.2 | 2327 | 803–5166 (39) |
4 | AGAG/AGAG | 41 | 8.2 | 1950 | 632–5299 (38) |
5 | AGAG/GGCA | 33 | 6.6 | 1415 | 430–4081 (30) |
6 | AAAA/GGCA | 29 | 5.8 | 1900 | 504–5644 (27) |
7 | GGAA/GGAA | 28 | 5.6 | 1743 | 153–4772 (27) |
8 | AGAA/GGAA | 27 | 5.4 | 2192 | 372–5408 (25) |
9 | AGAA/AGAG | 24 | 4.8 | 1785 | 479–4426 (22) |
10 | AAAA/GGAG | 21 | 4.2 | 2159 | 407–4199 (19) |
11 | GGAA/GGCA | 17 | 3.4 | 1098 | 242–2157 (16) |
12 | AGAA/AGAA | 16 | 3.2 | 2165 | 853–5481 (16) |
13 | AAAA/AAAA | 15 | 3 | 2323 | 690–4038 (15) |
14 | AGAA/GGCA | 8 | 1.6 | 1479 | 480–3063 (8) |
15 | GGAG/GGAG | 6 | 1.2 | 2134 | 706–4165 (5) |
16 | AGAA/AAAA | 4 | 0.8 | 3240 | 1455–4954 (4) |
17 | AGAA/AGCA | 4 | 0.8 | 2562 | 1737–2733 (3) |
18 | AGAG/AACA | 4 | 0.8 | 2495 | 1698–2919 (4) |
19 | AGAG/GACA | 4 | 0.8 | 1105 | 652–1563 (4) |
20 | GGCA/GGCA | 4 | 0.8 | 681 | 331–947 (3) |
21 | AGAG/GGAG | 3 | 0.6 | 2120 | 1387–4756 (3) |
22 | GGAA/GGAG | 3 | 0.6 | 1745 | 312–2195 (3) |
23 | AGAG/AGCG | 2 | 0.4 | 2002 | 520–3483 (2) |
24 | GGAG/GGCA | 2 | 0.4 | 907 | 387–1426 (2) |
25 | AAAA/AACA | 1 | 0.2 | 2210 | 2210 (1) |
26 | AGAG/AGCA | 1 | 0.2 | 2221 | 2221 (1) |
27 | AGCA/AAAA | 1 | 0.2 | 239 | 239 (1) |
28 | GAAA/GAAA | 1 | 0.2 | 3531 | 3531 (1) |
29 | GGAA/GAAA | 1 | 0.2 | 2194 | 2194 (1) |
30 | GGCA/GAAA | 1 | 0.2 | 937 | 937 (1) |
Diplotype | Gestational Age (Weeks) | Birthweight (g) | |||||||
---|---|---|---|---|---|---|---|---|---|
<33 | ≥33 | ≤1500 | >1500 | ||||||
N | % 1 | N | % 1 | N | % 1 | N | % 1 | ||
1 | AGAG/GGAA | 28 2 | 26.7 | 66 | 16.7 | 16 3 | 29.1 | 77 | 17.4 |
2 | AGAG/AAAA | 11 | 10.5 | 49 | 12.4 | 3 | 5.5 | 57 | 12.9 |
3 | AAAA/GGAA | 9 | 8.6 | 37 | 9.3 | 7 | 12.7 | 39 | 8.8 |
4 | AGAG/AGAG | 5 | 4.8 | 36 | 9.1 | 0 | 0 4 | 41 | 9.3 |
5 | AGAG/GGCA | 6 | 5.7 | 27 | 6.8 | 3 | 5.5 | 30 | 6.8 |
6 | AAAA/GGCA | 5 | 4.8 | 24 | 6.1 | 5 | 9.1 | 24 | 5.4 |
7 | AGAA/GGAA | 7 | 6.7 | 20 | 5.1 | 2 | 3.6 | 25 | 5.6 |
8 | GGAA/GGAA | 4 | 3.8 | 24 | 6.1 | 3 | 5.5 | 25 | 5.6 |
9 | AGAA/AGAG | 9 | 8.6 | 15 | 3.8 | 1 | 1.8 | 22 | 5 |
10 | AAAA/GGAG | 4 | 3.8 | 17 | 4.3 | 2 | 3.6 | 19 | 4.3 |
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Szala-Poździej, A.; Świerzko, A.S.; Gajek, G.; Kufelnicka-Babout, M.; Chojnacka, K.; Kobiela, P.; Jarych, D.; Sobczuk, K.; Mazela, J.; Domżalska-Popadiuk, I.; et al. Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates. Int. J. Mol. Sci. 2022, 23, 15336. https://doi.org/10.3390/ijms232315336
Szala-Poździej A, Świerzko AS, Gajek G, Kufelnicka-Babout M, Chojnacka K, Kobiela P, Jarych D, Sobczuk K, Mazela J, Domżalska-Popadiuk I, et al. Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates. International Journal of Molecular Sciences. 2022; 23(23):15336. https://doi.org/10.3390/ijms232315336
Chicago/Turabian StyleSzala-Poździej, Agnieszka, Anna S. Świerzko, Gabriela Gajek, Maja Kufelnicka-Babout, Karolina Chojnacka, Paulina Kobiela, Dariusz Jarych, Katarzyna Sobczuk, Jan Mazela, Iwona Domżalska-Popadiuk, and et al. 2022. "Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates" International Journal of Molecular Sciences 23, no. 23: 15336. https://doi.org/10.3390/ijms232315336