A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus
El-Fattha, A., AbdelAzeem, A., Zaki, A., Zaki, M., Abdelhamid, I., Ismail, S. (2020). A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus. EKB Journal Management System, 8(2), -. doi: 10.4103/MXE.MXE_16_19
Aliaa A. El-Fattha; Amira A. AbdelAzeem; Ahmed A. Zaki; Moushira E. Zaki; Ismail A. Abdelhamid; Somaia M. Ismail. "A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus". EKB Journal Management System, 8, 2, 2020, -. doi: 10.4103/MXE.MXE_16_19
El-Fattha, A., AbdelAzeem, A., Zaki, A., Zaki, M., Abdelhamid, I., Ismail, S. (2020). 'A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus', EKB Journal Management System, 8(2), pp. -. doi: 10.4103/MXE.MXE_16_19
El-Fattha, A., AbdelAzeem, A., Zaki, A., Zaki, M., Abdelhamid, I., Ismail, S. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus. EKB Journal Management System, 2020; 8(2): -. doi: 10.4103/MXE.MXE_16_19

A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus

Middle East Journal of Medical Genetics
Volume 8, Issue 2, July 2020  XML PDF (678.85 K)
DOI: 10.4103/MXE.MXE_16_19
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Authors
Aliaa A. El-Fattha; Amira A. AbdelAzeem; Ahmed A. Zaki; Moushira E. Zaki; Ismail A. Abdelhamid; Somaia M. Ismail
Abstract
Aim
To study the association of interleukin (IL) 1B promoter polymorphisms rs1143627 (−31T>C) and rs16944 (−511C>T) and the risk of keratoconus (KC) in the Egyptian population, establishing a biomarker for managing of KC cases and to give convenient genetic counseling.
Materials and methods
The association between − 31T/C and − 511C/T polymorphisms in the promoter and Egyptian KC patients were investigated. This study included 159 unrelated patients with affected cases and 159 healthy individuals for rs16944 (−511C>T) polymorphism, 144 blood samples that belong to unrelated affected cases, and 141 healthy individuals for rs1143627 (−31T>C) polymorphism. All cases had been examined in the Research Institute of Ophthalmology and written informed consents were obtained from all participating individuals. PCR–restriction fragment length polymorphism analyses were used for screening of rs1143627 (−31T>C) and rs16944 (−511 C>T) polymorphisms.
Results
The − 511 (rs16944) and −31 (rs1143627) polymorphisms in the promoter region of have been analyzed The C/C genotype frequency of rs1143627 (−31T>C; = 0.001) had a statistically significant association with increasing risk of KC. The C/C genotype frequency of rs16944 (−511C>T; = 0.066) was not statistically associated with increasing risk of KC. However, the TT genotype is more frequent in patients than controls (22.6 vs7.5%).
Conclusion
This is the first report and research of polymorphism screening in Egyptian KC patients. This result associates −31 (rs1143627) polymorphism with increasing the risk of KC. So, this polymorphism may play a role in developing KC among Egyptian families.
Keywords
Genotyping; interleukin 1B; Keratoconus; Polymorphism
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