No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

Cipriani, Valentina; Matharu, Baljinder K; Khan, Jane C.; Shahid, Humma; Hayward, Caroline; Wright, Alan F.; Armbrecht, Ana Maria; Dhillon, Baljean; Harding, Simon; Bishop, Paul N.; Bunce, Catey; Clayton, David; Moore, Anthony T.

doi:10.1038/ejhg.2011.118

Cited by 23 publications

(29 citation statements)

References 12 publications

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“…8,14,17,18 However, there remains debate as to whether rs10033900 contributes to AMD susceptibility, due to contradicting evidence published in this journal. [18][19][20] For example, Ennis et al 20 confirmed the association between the CFI region and AMD susceptibility in a UK cohort, although rs10033900 showed no association with AMD. Kondo et al 18 demonstrated the association of rs10033900 with the C allele in a Japanese cohort, showing the same association direction as the results of Fagerness et al 8 In contrast, Cipriani et al 19 observed no association between rs10033900 and AMD in a study of two independent cohorts from England and Scotland.…”

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confidence: 99%

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

et al. 2014

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confidence: 99%

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

et al. 2014

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“…Therefore, our meta-analysis focused on only those two SNPs. For rs10033900 , raw data were acquired in only 10 studies [7,13,14,15,19,20,21,22,23,24]. All of the studies included were case-control studies.…”

Section: Resultsmentioning

confidence: 99%

“…All of the studies included were case-control studies. Research reported by Cipriani et al [13] included studies on two populations (European and Scottish); each study population was considered separately in our meta-analysis. A study by Reynolds et al [22] was excluded because patients with drusen were included in the control group.…”

Section: Resultsmentioning

confidence: 99%

“…The allele and genotype distributions for rs10033900 are shown in table 4. Although the allele frequencies of C were distinct between the studies, we considered C as a variant allele based on the rs10033900 description in the National Center for Biotechnology Information and previous descriptions [11,13,15]. No study showed a deviation from the HWE in the control groups at a significance level of 0.05.…”

Section: Resultsmentioning

confidence: 99%

“…Ennis et al [12] provided support for the involvement of CFI in AMD. However, the findings were not replicated by Cipriani et al [13] and Smailhodzic et al [14]. Additional studies such as that by Kondo et al [15] obtained weak evidence of an association with rs10033900 in a Japanese sample population.…”

Section: Introductionmentioning

confidence: 86%

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Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

Yang¹,

Sun²,

Jin

et al. 2014

Ophthalmologica

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Purpose: To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. Methods: A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs10033900 and rs2285714 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ² test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. Results: No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity. Conclusions: In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the CFI gene and AMD.

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Craniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia

Goodwin

Larson

Jones

et al. 2014

Mol Genet Genomic Med

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Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

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No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

Cited by 23 publications

References 12 publications

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

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

Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

Craniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia

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