Assessment of the polymorphic sacii and dddei sites in the 5 flanking region of the human cystatin c gene in Egyptian patients

Joint Authors

Ghanim, Halah M.
Muhammad, Muhammad Rajab
Hilmi, Azzah Salih

Source

The Egyptian Journal of Biochemistry and Molecular Biology

Issue

Vol. 26, Issue 2 (31 Dec. 2008), pp.29-48, 20 p.

Publisher

Egyptian Society of Biochemistry and Molecular Biology

Publication Date

2008-12-31

Country of Publication

Egypt

No. of Pages

20

Main Subjects

Medicine

Topics

Abstract EN

Cyst tin C is a cysteine proteinase inhibitor with widespread distribution in body fluids and tissues.

Physiologically relevant polymorphisms have been identified in the promoter region and the signal peptide of the cyst tin C gene.

However, the final importance of cyst tin C polymorphisms in human diseases is still discussed controversially and the prognostic value in different conditions is unknown.

In this study, in order to assess the significance of the polymorphic genotypes at positions -82, -5 and +4 of the 5' flanking region of the CST3 gene in case of heart, kidney and/or diabetic disorders in Egyptian patients, we compared frequencies of these polymorphisms in various groups of Egyptian patients with different conditions and controls.

Genotyping analysis of all subjects revealed that these polymorphisms are in strong-linkage disequilibrium.

Notably, no statistically significant differences in the allele or haplotype frequencies were observed for the investigated polymorphisms between patient and control groups.

Moreover, haplotype differences within each group had no visible impact on plasma cyst tin C levels which were significantly elevated for all groups compared to the control group.

The observed elevation in cyst tin C levels was probably a reflection of reduced glomerular filtration rate in these patients.

Finally, our results suggest that in this population the haplotype alone was not associated with prognosis and that other, unknown environmental or genetic, factors may be of relevance.

American Psychological Association (APA)

Muhammad, Muhammad Rajab& Ghanim, Halah M.& Hilmi, Azzah Salih. 2008. Assessment of the polymorphic sacii and dddei sites in the 5 flanking region of the human cystatin c gene in Egyptian patients. The Egyptian Journal of Biochemistry and Molecular Biology،Vol. 26, no. 2, pp.29-48.
https://search.emarefa.net/detail/BIM-101680

Modern Language Association (MLA)

Muhammad, Muhammad Rajab…[et al.]. Assessment of the polymorphic sacii and dddei sites in the 5 flanking region of the human cystatin c gene in Egyptian patients. The Egyptian Journal of Biochemistry and Molecular Biology Vol. 26, no. 2 (Dec. 2008), pp.29-48.
https://search.emarefa.net/detail/BIM-101680

American Medical Association (AMA)

Muhammad, Muhammad Rajab& Ghanim, Halah M.& Hilmi, Azzah Salih. Assessment of the polymorphic sacii and dddei sites in the 5 flanking region of the human cystatin c gene in Egyptian patients. The Egyptian Journal of Biochemistry and Molecular Biology. 2008. Vol. 26, no. 2, pp.29-48.
https://search.emarefa.net/detail/BIM-101680

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references : p. 44-48

Record ID

BIM-101680