Journal of Medical Genetics and Genomics
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Article Number - 999F4075676


Vol.1(1), pp. 001-007 , October 2009

ISSN: 2141-2278



Full Length Research Paper

Complement receptor 1 gene polymorphisms in Tunisian patients with systemic lupus erythematosus


Imen Sfar1*, Yousr Gorgi1, Tarak Dhaouadi1, Lamia Ben Hassine2, Houda Aouadi1, Mouna Maklouf1, Thouraya Ben Romdhane1, Saloua Jendoubi-Ayed1, Narjess Khalfallah2, Adel Kheder3, Taieb Ben Abdallah1 and Khaled Ayed1




1Immunology research laboratory of kidney transplantation and immunopathology (Laboratoire de recherche LR03SP01). Charles Nicolle Hospital. Tunisia.

2Departments of Medicine. Charles Nicolle Hospital. Tunisia.

3Departments of Nephrology and Medicine. Charles Nicolle Hospital. Tunisia.


Email: drsfarimen@yahoo.fr






 Accepted: 07 August 2009  Published: 31 October 2009

Copyright © 2009 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0


Complement receptor 1 (CR1) is a membrane protein mediating the transport of immune complexes (ICs) to phagocytes, and at least two polymorphisms on the CR1 gene are related to erythrocyte surface density of CR1 molecules, in turn related to the rate of IC clearance from circulation. The aim of the study was to explore whether the polymorphic sites of CR1 gene in exon 22 (His 1208 Arg), and exon 33 (Pro 1827 Arg), leading to amino acid change in the protein sequence are associated with systemic lupus erythematosus (SLE) susceptibility. To investigate this association, genomic DNA of 62 SLE patients and 76 healthy blood donors were genotyped by PCR-RFLP and direct sequencing. The CR1 analysis showed no significant association of the CR1 functional polymorphisms with SLE. However, the C/G genotype in Pro 1827 Arg polymorphism was significantly associated to nephritis and to the presence of cryoglobulins/ ICs compared to C/C and G/G genotypes (OR: 3.68, 95% confidence interval [CI], 1.028 - 13.2; p = 0.038 and OR: 16.6, 95% confidence interval [CI], 3.92 - 31.1; p=0.0002, respectively). This study indicates that the analysed polymorphisms of the CR1 gene do not appear to be primarily involved in the susceptibility of SLE. Nevertheless the Pro 1827 Arg polymorphism could constitute a risk factor of gravity of the disease.

 

Key words: Complement receptor 1, polymorphism, systemic lupus erythematosus, nephritis, cryoglobulins, immune complexes.


APA (2009). Complement receptor 1 gene polymorphisms in Tunisian patients with systemic lupus erythematosus. Journal of Medical Genetics and Genomics, 1(1), 001-007.
Chicago Imen Sfar, Yousr Gorgi, Tarak Dhaouadi, Lamia Ben Hassine, Houda Aouadi, Mouna Maklouf, Thouraya Ben Romdhane, Saloua Jendoubi-Ayed, Narjess Khalfallah, Adel Kheder, Taieb Ben Abdallah and Khaled Ayed. "Complement receptor 1 gene polymorphisms in Tunisian patients with systemic lupus erythematosus." Journal of Medical Genetics and Genomics 1, no. 1 (2009): 001-007.
MLA Imen Sfar, et al. "Complement receptor 1 gene polymorphisms in Tunisian patients with systemic lupus erythematosus." Journal of Medical Genetics and Genomics 1.1 (2009): 001-007.
   
DOI
URL http://academicjournals.org/journal/JMGG/article-abstract/999F4075676

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