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SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

Li M, Wen F, Zuo C, Zhang X, Chen H, Huang S, Luo G - Mol. Vis. (2010)

Bottom Line: None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41-0.83).Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49-0.82).We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population.

Methods: DNA samples were obtained from 118 PCV patients and 115 healthy subjects. Data derived from the HapMap project were used to select tag single nucleotide polymorphisms (SNPs) across the extended SERPING1 region. A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. Genotyping of each tag SNP was performed by PCR restriction fragment length polymorphism and direct DNA sequencing techniques.

Results: Four SNPs for SERPING1, rs2509897, rs1005510, rs11603020, and rs2511989, were chosen as tag SNPs. None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41-0.83). Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49-0.82).

Conclusions: We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population.

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Related in: MedlinePlus

PCR restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing for all tag single nucleotide polymorphisms (SNPs). A: Restriction analysis for rs2509897 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). B: Direct sequencing confirmed the restriction patterns for rs2509897. C: Restriction analysis for rs1005510 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). D. Reverse sequencing confirmed the restriction patterns for rs1005510. E: Restriction analysis for rs11603020 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). F: Reverse sequencing confirmed the restriction patterns for rs11603020. G. Restriction analysis for rs2511989 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). H: Reverse sequencing confirmed the restriction patterns for rs2511989.
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f2: PCR restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing for all tag single nucleotide polymorphisms (SNPs). A: Restriction analysis for rs2509897 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). B: Direct sequencing confirmed the restriction patterns for rs2509897. C: Restriction analysis for rs1005510 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). D. Reverse sequencing confirmed the restriction patterns for rs1005510. E: Restriction analysis for rs11603020 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). F: Reverse sequencing confirmed the restriction patterns for rs11603020. G. Restriction analysis for rs2511989 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). H: Reverse sequencing confirmed the restriction patterns for rs2511989.

Mentions: Four SNPs were chosen as tag SNPs. Genotypes were determined successfully by restriction enzyme digestion in all subjects for the four SNPs and confirmed by direct sequencing (Figure 2). None of the four SNPs genotyped in this study showed significant deviation from Hardy–Weinberg equilibrium tests in both case and control subjects (all p>0.252).


SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

Li M, Wen F, Zuo C, Zhang X, Chen H, Huang S, Luo G - Mol. Vis. (2010)

PCR restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing for all tag single nucleotide polymorphisms (SNPs). A: Restriction analysis for rs2509897 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). B: Direct sequencing confirmed the restriction patterns for rs2509897. C: Restriction analysis for rs1005510 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). D. Reverse sequencing confirmed the restriction patterns for rs1005510. E: Restriction analysis for rs11603020 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). F: Reverse sequencing confirmed the restriction patterns for rs11603020. G. Restriction analysis for rs2511989 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). H: Reverse sequencing confirmed the restriction patterns for rs2511989.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2822549&req=5

f2: PCR restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing for all tag single nucleotide polymorphisms (SNPs). A: Restriction analysis for rs2509897 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). B: Direct sequencing confirmed the restriction patterns for rs2509897. C: Restriction analysis for rs1005510 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). D. Reverse sequencing confirmed the restriction patterns for rs1005510. E: Restriction analysis for rs11603020 resulted in digestible fragment (C/C), undigestible fragment (T/T), and heterozygote (C/T). F: Reverse sequencing confirmed the restriction patterns for rs11603020. G. Restriction analysis for rs2511989 resulted in digestible fragment (A/A), undigestible fragment (G/G), and heterozygote (A/G). H: Reverse sequencing confirmed the restriction patterns for rs2511989.
Mentions: Four SNPs were chosen as tag SNPs. Genotypes were determined successfully by restriction enzyme digestion in all subjects for the four SNPs and confirmed by direct sequencing (Figure 2). None of the four SNPs genotyped in this study showed significant deviation from Hardy–Weinberg equilibrium tests in both case and control subjects (all p>0.252).

Bottom Line: None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41-0.83).Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49-0.82).We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population.

Methods: DNA samples were obtained from 118 PCV patients and 115 healthy subjects. Data derived from the HapMap project were used to select tag single nucleotide polymorphisms (SNPs) across the extended SERPING1 region. A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. Genotyping of each tag SNP was performed by PCR restriction fragment length polymorphism and direct DNA sequencing techniques.

Results: Four SNPs for SERPING1, rs2509897, rs1005510, rs11603020, and rs2511989, were chosen as tag SNPs. None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41-0.83). Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49-0.82).

Conclusions: We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population.

Show MeSH
Related in: MedlinePlus