Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population

Qian, Ding-guo; Kan, Mengyuan; Weng, Xiaoling; Yugeng, Huang; Zhou, Changbo; Gen-long, YU; Wang, Ting; Zhou, Daizhan; Zhang, Zhou; Zhang, Di; Tang, Wei; Liu, Yun

doi:10.1038/ejhg.2014.37

Cited by 8 publications

(8 citation statements)

References 28 publications

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“…In our study, although the C allele frequency distribution was not statistically significant, it was higher in the patient group than in the control group. In another study conducted in a Chinese population in which 288 patients with advanced wet-and dry-type AMD and 387 healthy controls were examined, the relationship between CFI rs10033900 polymorphism and AMD was confirmed, but the C allele was reported to be a risk-increasing factor, similar to what we report in our study [24].…”

Section: Discussionsupporting

confidence: 89%

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

et al. 2019

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Objective: Evaluation of Complement Factor I (CFI) rs10033900 and rs2285714 polymorphism frequencies in patients with age-related macular degeneration (AMD) and healthy controls in a Turkish population. Methods: A total of 111 eyes of 111 AMD patients and 96 eyes of 96 healthy controls, only one eye of individuals, were included in the study; however, 2 patients' and 4 controls' samples were excluded as analyses could not be performed for rs10033900 polymorphism. The AMD patients and control group (> 50 years) lacked corneal, lenticular, vitreal opacity. However, these patients did not have any retinal diseases apart from AMD. Venous blood samples of patients were collected. Central macular thickness, subfoveal choroidal thickness (SCT), presence of reticular drusen, epiretinal membrane, and pigment epithelial detachment were investigated using Spectral-Domain Optical Coherence Tomography, and the largest diameter of atrophic areas measured. Drusen properties were documented from fundus photographs. The lesion width was calculated by using fundus fluorescein angiography. Results: There was no difference between patient and control groups and poly-morphism distributions. The frequency of the CT allele was higher in patients with dry-type AMD with retinal pigment epithelial abnormality (p = 0.041). SCT was significantly thinner in TT allele carriers with rs2285714 polymorphism (p = 0.030). No significant relationship was found between the other parameters and polymorphism distributions. Con clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD.

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Section: Discussionsupporting

confidence: 89%

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

et al. 2019

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“…A total of 197 AMD patients (age, 74.87 ± 6.88; female percentage, 43.15%) and 259 unrelated healthy individuals (age, 67.61 ± 6.57; female percentage, 54.44%) were recruited from Putuo People's Hospital, Zhoushan, China (Table 1), and were also used in our previous studies (Qian et al, 2014;Kan et al, 2014Kan et al, , 2015. All of the participants were enrolled concurrently from 2007 to 2008 and were of Han Chinese origin.…”

Section: Subjectsmentioning

confidence: 99%

“…AMD is becoming a major global public health issue, and it presents itself as a complex disease caused by genetic and environmental factors. Studies have shown that environmental factors, such as increasing age (Klein et al, 1997;Friedman et al, 2004) and cigarette smoking (Seddon et al, 1996;Tomany et al, 2004), have risk impacts on AMD, and multiple susceptible genetic loci, which primarily regulate the complement, lipid, angiogenic, and extracellular matrix pathways, also contribute to AMD, such as CFH (Edwards et al, 2005;Klein et al, 2005), C3 (Yates et al, 2007;Maller et al, 2007) and CFI (Fagerness et al, 2009;Qian et al, 2014), APOE (Souied et al, 1998;McKay et al, 2011), LIPC (Neale et al, 2010) and TIMP3 (Chen et al, 2010).…”

Section: Introductionmentioning

confidence: 97%

Leukocyte telomere length is associated with advanced age-related macular degeneration in the Han Chinese population

Weng

Zhang

Kan

et al. 2015

Experimental Gerontology

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“…The full texts were then evaluated, and 198 additional articles were excluded due to duplication (154), meta-analysis or systematic analysis (28), only case group (4), and no data for each genotype (12). Finally, 11 different articles [23][24][25][26][27][28][29][30][31][32][33] were included in our meta-analysis, including 12 case-control studies about CFI gene rs10033900 polymorphism and total AMD risk and 3 case-control studies about rs2285714 polymorphism and AMD risk. The available clinical information in all publications were shown in Supplementary Table S1.…”

Section: Study Searching and Their Basic Informationmentioning

confidence: 99%

Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis

2020

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The complement factor I (CFI) gene polymorphisms have been reported to age-related macular degenerative (AMD) risk, nevertheless, above association is not consistent. We investigated a meta-analysis to evaluate the conclusions between CFI polymorphisms (rs10033900 and rs2285714) and AMD risk. An identification was covered with the PubMed and other databases through February 8, 2020. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of associations. After a comprehensive search, 11 different articles (12 case–control studies for total AMD and 11 case–control studies about neovascular disease/geographic atrophy in AMD) were retrieved. Individuals carrying C-allele or CC genotype of rs10033900 polymorphism may have a decreased risk to be AMD disease. For example, there has a significantly decreased relationship between rs10033900 polymorphism and AMD both in the whole group, Caucasian population and population-based source of control. Moreover, a similar trend in subgroup of genotype method group by MALDI-TOF MS was detected. To classify the type of AMD in further, decreased association was also observed in both neovascular disease and geographic atrophy AMD. No association was found about rs2285714 polymorphism. Our present groundbreaking study suggests that the CFI rs10033900 polymorphism is potentially associated with the risk of AMD development.

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Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population

Cited by 8 publications

References 28 publications

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

Leukocyte telomere length is associated with advanced age-related macular degeneration in the Han Chinese population

Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis

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