Lack of association with PEDF Met72Thr variant in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese population.
OBJECTIVE
To investigate whether Met72Thr (rs1136287), a common single nucleotide polymorphism (SNP) variant of the pigment epithelium-derived factor (PEDF) gene, is associated with neovascular age-related macular degeneration (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort.


METHODS
We genotyped Met72Thr (rs1136287) in persons of Han Chinese descent: 177 PCV patients, 131 nAMD patients, and 182 control persons. Genotyping was accomplished using the Multiplex SNaPshot system and by direct DNA sequencing. Genotypes and allele frequencies of patients and controls were evaluated for the SNP using PLINK software.


RESULTS
The minor allele frequency of the PEDF Met72Thr variant did not differ significantly between either PCV or nAMD and the control group: p = 0.3822 and p = 0.9822, respectively. The p-values for the additive, dominant, and recessive models were not statistically significant for PCV or nAMD.


CONCLUSIONS
No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Kunfang
K
Wu
Feng
F
Wen
Chengguo
C
Zuo
Meng
M
Li
Xiongze
X
Zhang
Hui
H
Chen
Renpan
R
Zeng
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China / Q000453:epidemiology; D002829:Choroid / Q000098:blood supply*; D015862:Choroid Diseases / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D011123:Polyploidy; D015995:Prevalence; D015843:Serpins / Q000235:genetics* / Q000378:metabolism; D000099174:Pigment Epithelium-Derived Factor
D004247:DNA; D005136:Eye Proteins; D009414:Nerve Growth Factors; D015843:Serpins; D000099174:Pigment Epithelium-Derived Factor