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Klin Monbl Augenheilkd 2017; 234(04): 478-482
DOI: 10.1055/s-0043-104419
Klinische Studie
Georg Thieme Verlag KG Stuttgart · New York

Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population

Komplementkomponente C3-Variante (R102G) und das Risiko für exsudative altersbedingte Makuladegeneration in der tunesischen Bevölkerung
Imen Habibi
1   Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi)
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Imen Sfar
1   Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi)
,
Fedra Kort
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Rim Bouraoui
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Ahmed Chebil
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Rim Limaiem
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Saloua Ayed
1   Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi)
,
Taïeb Ben Abdallah
1   Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi)
,
Leila El Matri
2   Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia (Chairmen: Prof. Leila El Matri)
,
Yousr Gorgi
1   Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi)
› Author Affiliations
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Publication History

Publication Date:
03 May 2017 (online)

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Abstract

Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population.

Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively.

Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90–3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia.

Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.

Zusammenfassung

Absicht Die Verbindung zwischen dem Polymorphismus (S/F) p.R102G des Komplementbestandteils im C3-Gen und der altersbedingten Makuladegeneration (AMD) in der tunesischen Bevölkerung erforschen.

Methode Die molekulare Studie wurde durch PCR-SSP an 207 gesunden Kontrollpersonen (normaler Fundus) und 145 Patienten mit exsudativer AMD durchgeführt. Die CH50-Aktivität und die Quantifizierung des C3- und C4-Komplements wurden durch hauseigene technische Verfahren sowie mit Nephelometrie gemessen.

Resultate Die Prävalenz des C3-Genotyp-Polymorphismus war erheblich höher bei AMD-Patienten gegenüber gesunden Kontrollprobanden (OR: 2.41, IC 95% [1.90–3.05], p = 0.0007). Allerdings wurde kein Zusammenhang zwischen dieser Allelenvariante und verschiedenen Typen von Neovaskularisationen festgestellt. Ebenso gab es keinen Zusammenhang zwischen diesem Polymorphismus und der Prävalenz einer funktionalen und/oder quantitativen Hypokomplementämie.

Ergebnis Der C3-GG-Genotyp des Gens könnte ein Screeningmerkmal für AMD in der tunesischen Bevölkerung sein. Allerdings scheint es nicht das klinische Profil der Erkrankung zu beeinflussen.

Key words

AMD - C3 - complement

Schlüsselwörter

AMD - C3 - Komplement
 

  • References

  • 1 Smailhodzic D, Muether PS, Chen J. et al. Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration. Ophthalmology 2012; 119: 2304-2311
    CrossrefPubMedGoogle Scholar
  • 2 Yates JR, Sepp T, Matharu BK. et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007; 357: 553-561
    CrossrefPubMedGoogle Scholar
  • 3 Maller JB, Fagerness JA, Reynolds RC. et al. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 2007; 39: 1200-1201
    CrossrefPubMedGoogle Scholar
  • 4 Pei XT, Li XX, Bao YZ. et al. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. Curr Eye Res 2009; 34: 615-622
    CrossrefPubMedGoogle Scholar
  • 5 Thakkinstian A, McKay GJ, McEvoy M. et al. Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol 2011; 173: 1365-1379
    CrossrefPubMedGoogle Scholar
  • 6 Bonyadi M, Mohammadian T, Jabbarpoor Bonyadi MH. et al. Association of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population. Ophthalmic Genet 2017; 38: 61-66
    PubMedGoogle Scholar
  • 7 Qian-Qian Y, Yong Y, Jing Z. et al. Nonsynonymous single nucleotide polymorphisms in the complement component 3 gene are associated with risk of age-related macular degeneration: A meta-analysis. Gene 2015; 561: 249-255
    CrossrefPubMedGoogle Scholar
  • 8 Grassmann F, Fleckenstein M, Chew EY. et al. Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration. PLoS One 2015; 10: e0126636
    CrossrefPubMedGoogle Scholar
  • 9 Nishida N, Walz T, Springer TA. Structural transitions of complement component C3 and its activation products. Proc Natl Acad Sci U S A 2006; 103: 19737-19742
    CrossrefPubMedGoogle Scholar
  • 10 Helgason H, Sulem P, Duvvari MR. et al. A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat Genet 2013; 45: 1371-1374
    CrossrefPubMedGoogle Scholar