Association of insulin gene VNTR INS -23Hphl A>T (rs689) polymorphism with type 1 diabetes mellitus in Egyptian children
Joint Authors
Kamal, Azzah M.
Qasim, Samar H.
Salah, Narmin
Ibrahim, Amani
Amin, Maha
Mamduh, Muna
Radwan, Iman R.
Mira, Marwah F.
Ubayd, Jamal T. A.
Badawi, Nura
Bazaraa, Hafiz
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 20, Issue 1 (31 Jan. 2019), pp.1-6, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2019-01-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Background: Typel diabetes mellitus (T1DM) has a multi-factorial pathogenesis; the interplay between genetic susceptibility and environmental factors is thought to provide the fundamental element for the disease.
Apart from HLA, more than 50 genetic variants are associated with T1DM.
INS -23/Hphl A>T (rs689) is one of the effective loci with inconsistent reports in the literature.
Accordingly, this study was designed to define the frequencies of INS -23/ Hphl A>T polymorphism and its association with T1DM in Egyptian diabetic children and their non-diabetic family members as compared to healthy controls.
Methods: Using polymerase chain reaction-restriction fragment length polymorphism methodology, analysis of insulin gene VNTR polymorphism was performed for 496 samples (91 patients, 179 parents, 130 siblings, and 96 controls); parents and siblings were apparently healthy.
Results: INS genotypes and allele frequencies were comparable between patients, non-diabetic siblings, and parents (p = 0.97 and 0.77, respectively).
However, the TT/ATgenotype and Tallele were over-presented in the three family groups compared to controls (p = 0.0015 and 0.0029, respectively).
Comparing patients to controls, the Tallele is considered a risk factor fa the development of TIDM (OR 2.56, 95% Cl 1.42-4.62, p = 0.0017).
INS -23/Hph1 A>T polymorphism showed concordance between patients and their mothers (Kappa = 0.446, p = 0.000) but not with their fathers (Kappa = 0.031, p = 0.765).
Conclusions: INS -23/Hph 1 A>T gene polymorphism was shown to be a risk factor for the development of TIDM.
This is in agreement with some and in disagreement with other reports.
Studies of risk susceptibility factors have to be carried out locally in each community; results cannot be extrapolated from one ethnic group to another.
American Psychological Association (APA)
Kamal, Azzah M.& Mira, Marwah F.& Ubayd, Jamal T. A.& Qasim, Samar H.& Radwan, Iman R.& Mamduh, Muna…[et al.]. 2019. Association of insulin gene VNTR INS -23Hphl A>T (rs689) polymorphism with type 1 diabetes mellitus in Egyptian children. The Egyptian Journal of Medical Human Genetics،Vol. 20, no. 1, pp.1-6.
https://search.emarefa.net/detail/BIM-893797
Modern Language Association (MLA)
Kamal, Azzah M.…[et al.]. Association of insulin gene VNTR INS -23Hphl A>T (rs689) polymorphism with type 1 diabetes mellitus in Egyptian children. The Egyptian Journal of Medical Human Genetics Vol. 20, no. 1 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-893797
American Medical Association (AMA)
Kamal, Azzah M.& Mira, Marwah F.& Ubayd, Jamal T. A.& Qasim, Samar H.& Radwan, Iman R.& Mamduh, Muna…[et al.]. Association of insulin gene VNTR INS -23Hphl A>T (rs689) polymorphism with type 1 diabetes mellitus in Egyptian children. The Egyptian Journal of Medical Human Genetics. 2019. Vol. 20, no. 1, pp.1-6.
https://search.emarefa.net/detail/BIM-893797
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 5-6
Record ID
BIM-893797