Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population
Abstract
:1. Introduction
2. Subjects and Methods
2.1. Study Population
2.2. Ethical Approval
2.3. Sample Preparation
2.4. Genotyping
2.5. Statistical Analysis
3. Results
4. Discussion
5. Limitations
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Program | Cycle | Time | Temperature (°C) | Number of Cycles |
---|---|---|---|---|
Incubation | HotStart | 10 min | 95 | 1 |
Amplification and detection | Denaturation | 10 s | 95 | 40–45 |
Primer annealing | 30 s | 60 | ||
Extension | 1 s | 72 | ||
Cooling | Cooling | 30 s | 40 | |
Colour compensation | Denaturation | 1 s | 95 | |
Cooling | 30 s | 40 | ||
Hybridization | 67 | 1 reading/°C | ||
Cooling | 40 s | 40 | ||
Melting curve | Hybridization | 1 s | 60 | |
Hybridization | 61 | 5 readings/°C | ||
Cooling | Cooling | 40 s | 40 |
Number and Proportion of Individuals | ||
---|---|---|
Gender | Female | 91 (43.5%) |
Male | 118 (56.5%) | |
Type of cleft | Unilateral cleft of the lip and the hard palate | 113 (54.1%) |
Bilateral cleft of the lip and the hard palate | 45 (21.5%) | |
Cleft palate only | 32 (15.3%) | |
Isolated cleft lip | 19 (9.1%) |
Genotype | OR | 95% CI | p |
---|---|---|---|
GG | Ref. | ||
AA | 0.67 | 0.39–1.15 | 0.144 |
AG | 0.57 | 0.39–0.84 | 0.004 |
AA + AG | 0.59 | 0.41–0.85 | 0.005 |
Genotype | OR | 95% CI | p |
---|---|---|---|
AA | Ref. | ||
AG | 1.29 | 0.85–1.96 | 0.229 |
GG | 2.13 | 1.31–3.48 | 0.002 |
AG + GG | 1.52 | 1.03–2.24 | 0.036 |
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Zawiślak, A.; Woźniak, K.; Agirre, X.; Gupta, S.; Kawala, B.; Znamirowska-Bajowska, A.; Grocholewicz, K.; Lubiński, J.; Prosper, F.; Jakubowska, A. Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population. Int. J. Environ. Res. Public Health 2021, 18, 11483. https://doi.org/10.3390/ijerph182111483
Zawiślak A, Woźniak K, Agirre X, Gupta S, Kawala B, Znamirowska-Bajowska A, Grocholewicz K, Lubiński J, Prosper F, Jakubowska A. Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population. International Journal of Environmental Research and Public Health. 2021; 18(21):11483. https://doi.org/10.3390/ijerph182111483
Chicago/Turabian StyleZawiślak, Alicja, Krzysztof Woźniak, Xabier Agirre, Satish Gupta, Beata Kawala, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubiński, Felipe Prosper, and Anna Jakubowska. 2021. "Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population" International Journal of Environmental Research and Public Health 18, no. 21: 11483. https://doi.org/10.3390/ijerph182111483