Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population

Bonyadi, Mortaza; Norouzi, Neda; Babaei, Esmaeil; Bonyadi, Mohammad Reza; Javadzadeh, Alireza; Yaseri, Mehdi; Soheilian, Masoud

doi:10.1007/s10792-018-0835-0

Cited by 5 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It should be bear in mind that the other genes of the complement system including C3 (rs2230199), CFI (rs141853578), and CFH (rs2274700, rs3753395, rs800292, and rs1061170) had previously studied in this population have shown their association with the disease [17][18][19][20][21][22][23].…”

Section: Discussionmentioning

confidence: 99%

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study

et al. 2020

Self Cite

View full text Add to dashboard Cite

Background: Age-related Macular Degeneration (AMD) is a complex eye disease, which is genetically associated with different susceptibility loci. We planned to investigate the possible association of Complement Factor B (CFB) rs4151667 (L9H) variants and their possible interaction with Complement Factor H (CFH) Y402H and Complement factor 3 (C3) rs2230199 (R102G) in AMD. Methods: This case-control association study included 216 advanced type AMD patients and 191 healthy individuals for evaluation. Extracted-DNA samples were genotyped for the polymorphic regions of CFB rs4151667 (L9H), CFH Y402H and C3 rs2230199 (R102G). Results: The distribution of CFB rs4151667 (L9H) genotypes was not significantly different in the AMD patients compared to that of controls (P = 0.18). The AT genotype frequencies for CFB was non significantly lower in AMD group (6.5% vs. 13.1%, AOR = 0.49, CI = 0.23-1.04, P = 0.064(. The A allele of CFB rs4151667 (L9H) was found to be non-significantly lower in AMD patients. CFB rs4151667 (L9H) had no protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants. Conclusions: This study showed that the protective role of CFB rs4151667 (L9H) in AMD is not significant and it has no significant protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants.

show abstract

Section: Discussionmentioning

confidence: 99%

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

“…So far, several genes involved in the complement system such as C3, CFI, and CFH have been studied in samples of the Iranian population in which C3 (rs2230199), CFI (rs141853578), and CFH (rs2274700, rs3753395, rs800292, and rs1061170) genes have shown significant association with AMD in this population 28, 29, 30, 31, 32, 33, 34. Several studies have been conducted on the association of CFB gene variation and AMD.…”

Section: Discussionmentioning

confidence: 99%

The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients

Roshanipour

Bonyadi

et al. 2019

Journal of Current Ophthalmology

Self Cite

View full text Add to dashboard Cite

PurposeTo determine the possible association of rs4151667 (L9H) complement factor B (CFB) gene with age-related macular degeneration (AMD). The L9H is one of the functional variations of the CFB. CFB gene encodes the most important protein of the complement system.MethodsTwo hundred sixty-six patients with AMD and 194 unrelated age/sex-matched controls were genotyped for CFB gene (rs4151667) using the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. All research subjects were selected from three regions of Iran (Tehran, Tabriz, and Gonabad).ResultsThe results showed a significant difference between the frequency of non-TT genotype in total patients and controls [odds ratio (OR) = 0.424, P = 0.038]. The analysis for each studied region showed that in patients originating from the Gonabad population, the frequency of TT and non-TT genotypes between patients and the control group were significantly different (OR = 2.894, P = 0.046 for TT genotype and OR = 0.346, P = 0.026 for non-TT genotype). In patients originating from Tabriz population, TT and non-TT genotypes and A allele revealed considerably different frequencies between the patient and control groups (OR = 3.043, P = 0.017; OR = 0.329, P = 0.013 and OR = 0.347, P = 0.048, respectively). Analysis of patients from Tehran also showed that there was a significant difference in the frequency of TT genotype between patients and controls (OR = 2.168, P = 0.04).ConclusionsThe results of the current study indicated a possible protective role for non-TT genotype in L9H variation CFB gene against AMD in a sample of the Iranian population. The region segregation results showed that TT genotype might be a risk factor for susceptibility to AMD.

show abstract

Functional evaluation of rare variants in complement factor I using a minigene assay

Donelson,

Ghiringhelli Borsa,

Taylor

et al. 2024

Front. Immunol.

View full text Add to dashboard Cite

The regulatory serine protease, complement factor I (FI), in conjunction with one of its cofactors (FH, C4BP, MCP, or CR1), plays an essential role in controlling complement activity through inactivation of C3b and C4b. The functional impact by missense variants in the CFI gene, particularly those with minor allele frequencies of 0.01% to 0.1%, is infrequently studied. As such, these variants are typically classified as variants of uncertain significance (VUS) when they are identified by clinical testing. Herein, we utilized a minigene splicing assay to assess the functional impact of 36 ultra-rare variants of CFI. These variants were selected based on their minor allele frequencies (MAF) and their association with low-normal FI levels. Four variants lead to aberrant splicing–one 5’ consensus splice site (NM_000204.5: c.1429G>C, p.Asp477His) and three exonic changes (c.355G>A, p.Gly119Arg; c.472G>A, p.Gly158Arg; and c.950G>A, p.Arg317Gln)–enabling their reclassification to likely pathogenic (LP) or pathogenic (P) based on ACMG guidelines. These findings underscore the value of functional assays, such as the minigene assay, in assessing the clinical relevance of rare variants in CFI.

show abstract

Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population

Abstract: Current study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. This study also suggests that the frequency of G119R polymorphism in our population is not as rare as reported from other populations.

Cited by 5 publications

References 20 publications

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study

Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study

The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients

Functional evaluation of rare variants in complement factor I using a minigene assay

Contact Info

Product

Resources

About