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Clinical Ophthalmology Volume 11, 2017 - Issue
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Original Research

Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population

Antonia Sarli1 Department of Clinical Biochemistry, Attikon University General Hospital
,
Iosif Skalidakis2 1st Department of Ophthalmology, “G. Gennimatas” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens
,
Aliki Velissari1 Department of Clinical Biochemistry, Attikon University General Hospital
,
Chryssanthi Koutsandrea2 1st Department of Ophthalmology, “G. Gennimatas” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens
,
Maria Stefaniotou3 Department of Ophthalmology, Ioannina University General Hospital, University of Ioannina, Ioannina, Greece
,
Michael B Petersen4 Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark;5 Department of Clinical Medicine, Aalborg University Hospital, Aalborg, Denmark
,
Christos Kroupis1 Department of Clinical Biochemistry, Attikon University General HospitalCorrespondence[email protected]
,
George Kitsos3 Department of Ophthalmology, Ioannina University General Hospital, University of Ioannina, Ioannina, Greece
&
Marilita M Moschos2 1st Department of Ophthalmology, “G. Gennimatas” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens
 show all
Pages 1347-1358 | Published online: 26 Jul 2017

Figures & data

Table 1 Clinical characteristics of all 223 participants in the study

Figure 1 Agarose electrophoresis result of the ARMS2 A69S PCR-RFLP genotyping method.

Notes: In the first two wells, the MW PCR marker and the PCR blank are shown. Wells 2 and 4–6 show wild-type GG samples; wells 7 and 8 show heterozygous G/T samples, and wells 1 and 3 show homozygote TT samples.
Abbreviations: PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; MW, molecular weight.
Figure 1 Agarose electrophoresis result of the ARMS2 A69S PCR-RFLP genotyping method.

Figure 2 Agarose electrophoresis result of the CD14 C260T PCR-RFLP genotyping method.

Notes: In the first two wells, the ϕχ174 HaeIII DNA ladder and the PCR blank are shown. Wells 1 and 5–8 show the C/T heterozygous samples, wells 2 and 4 the wild-type CC samples, and well 3 a homozygote TT sample.
Abbreviations: PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism.
Figure 2 Agarose electrophoresis result of the CD14 C260T PCR-RFLP genotyping method.

Figure 3 Agarose electrophoresis result of the TLR4 Asp299Gly PCR-RFLP genotyping method.

Notes: In the first well, the φχ174 HaeIII DNA ladder is shown. Wells 2 and 4–7 show the wild-type AA samples and wells 1 and 3 the A/G heterozygous samples.
Abbreviations: PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism.
Figure 3 Agarose electrophoresis result of the TLR4 Asp299Gly PCR-RFLP genotyping method.

Figure 4 Agarose electrophoresis result of the TLR4 Thr399Ile PCR-RFLP genotyping method.

Notes: In the first two wells, the MW PCR marker and the PCR blank are shown. Wells 2–8 show the wild-type CC samples and well 1 the heterozygous C/T sample.
Abbreviations: PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; MW, molecular weight.
Figure 4 Agarose electrophoresis result of the TLR4 Thr399Ile PCR-RFLP genotyping method.

Table 2 Genotype frequencies, inheritance models, and calculated ORs for the A69S SNP in the ARMS2 gene (G wild-type allele, T risk mutant allele)

Table 3 Genotype frequencies, inheritance models, and calculated ORs for the C260T SNP in the CD14 gene (C wild-type allele, T mutant allele)

Table 4 Genotype frequencies and calculated ORs for the Asp299Gly (A wild-type allele, G risk mutant allele) and the Thr399Ile (C wild-type allele, T risk mutant allele) SNPs in the TLR4 gene

Table 5 TLR4 gene haplotype association with the disease

Table 6 Multivariate model of AMD risk based on genotypes and clinical and environmental factors

Figure S1 DNA sequencing analysis of a wild-type GG, a heterozygote G/T, and a mutant TT around the ARMS2 A69S SNP area (forward primer).

Abbreviation: SNP, single-nucleotide polymorphism.

Figure S1 DNA sequencing analysis of a wild-type GG, a heterozygote G/T, and a mutant TT around the ARMS2 A69S SNP area (forward primer).Abbreviation: SNP, single-nucleotide polymorphism.

Figure S2 DNA sequencing analysis of a wild-type GG, a heterozygote G/T, and a mutant TT around the CD14 C260T SNP area (reverse primer).

Abbreviation: SNP, single-nucleotide polymorphism.

Figure S2 DNA sequencing analysis of a wild-type GG, a heterozygote G/T, and a mutant TT around the CD14 C260T SNP area (reverse primer).Abbreviation: SNP, single-nucleotide polymorphism.

Figure S3 DNA sequencing analysis of a wild-type AA and a heterozygote A/G around the TLR4 Asp299Gly SNP area (forward primer).

Abbreviation: SNP, single-nucleotide polymorphism.

Figure S3 DNA sequencing analysis of a wild-type AA and a heterozygote A/G around the TLR4 Asp299Gly SNP area (forward primer).Abbreviation: SNP, single-nucleotide polymorphism.

Table S1 Sequences of primers used in PCR-RFLP genotyping methods of SNPs in ARMS2, CD14, and TLR4 genes

Table S2 Multivariate model of AMD risk with all SNPs and all clinical variables

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