SERPING1 polymorphisms in polypoidal choroidal vasculopathy.
OBJECTIVE
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.
Li
Meng
M
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Wen
Feng
F
Zuo
Chengguo
C
Zhang
Xiongze
X
Chen
Hui
H
Huang
Shizhou
S
Luo
Guangwei
G
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015862:Choroid Diseases / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human