Ethnic specific association of the CAV1/CAV2 locus with primary open-angle glaucoma.
A single-nucleotide polymorphism (SNP) rs4236601 at the CAV1/CAV2 locus is associated with primary open-angle glaucoma (POAG). Rs4236601 is common in Caucasians but rare in East Asians. Here we conducted a haplotype-tagging SNP analysis followed by replication in a total of 848 POAG cases and 1574 controls drawn from 3 cities in China and 1 city in Japan. Two SNPs, rs4236601 (odds ratio [OR] = 6.25; P = 0.0086) and a tagging-SNP rs3801994 (OR = 1.32; P = 0.042), were associated with POAG in the Hong Kong Chinese cohort after age and gender adjustments. Rs4236601 was associated with POAG also in Shantou (OR = 6.09; P = 0.0037) and Beijing (OR = 3.92; P = 0.030) cohorts after age and gender adjustment, with a pooled-OR of 5.26 (P = 9.0 × 10(-6)) in Chinese; but it is non-polymorphic in the Osaka cohort. SNP rs3801994 showed a similar trend of effect in the Shantou and Beijing cohorts, with a pooled-OR of 1.23 (P = 0.022) and 1.20 (P = 0.063) in Chinese, prior to and after age and gender adjustment, respectively; but it showed a reverse effect in the Osaka cohort (OR = 0.58; P = 0.033) after the adjustments. We have thus confirmed the association of rs4236601 with POAG in different Chinese cohorts. Also, we found a common SNP rs3801994 of diverse associations with POAG between Chinese and Japanese.
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
Shi Song
SS
Rong
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.|Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
Li Jia
LJ
Chen
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
Christopher K S
CK
Leung
Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Kenji
K
Matsushita
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Liyun
L
Jia
Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Atsuya
A
Miki
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
Sylvia W Y
SW
Chiang
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
Pancy O S
PO
Tam
Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Noriyasu
N
Hashida
Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.
Alvin L
AL
Young
Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Motokazu
M
Tsujikawa
Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Shantou, China.
Mingzhi
M
Zhang
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Ningli
N
Wang
Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Kohji
K
Nishida
Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.|Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.|Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Shantou, China.
Chi Pui
CP
Pang
D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D051242:Caveolin 1 / Q000235:genetics*; D051243:Caveolin 2 / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D005006:Ethnicity; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044465:White People
C495540:CAV1 protein, human; C495544:CAV2 protein, human; D051242:Caveolin 1; D051243:Caveolin 2