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Kim, Sewon,Kim, Kyunglan,Heo, Dong Won,Kim, Jong-Sung,Park, Chan Kee,Kim, Chang-sik,Kang, Changwon Molecular Vision 2015 Molecular vision Vol.21 No.-
<P><B>Purpose</B></P><P>The human <I>CAV1</I>-<I>CAV2</I> locus has been associated with susceptibility to primary open-angle glaucoma in four studies of Caucasian, Chinese, and Pakistani populations, although not in several other studies of non-Korean populations. In this study with Korean participants, the <I>CAV1</I>-<I>CAV2</I> locus was investigated for associations with susceptibility to primary open-angle glaucoma accompanied by elevated intraocular pressure (IOP), namely, high-tension glaucoma (HTG), as well as with IOP elevation, which is a strong risk factor for glaucoma.</P><P><B>Methods</B></P><P>Two single nucleotide polymorphisms (SNPs) were genotyped in 1,161 Korean participants including 229 patients with HTG and 932 healthy controls and statistically examined for association with HTG susceptibility and IOP. One SNP was rs4236601 G>A, which had been reported in the original study, and the other SNP was rs17588172 T>G, which was perfectly correlated (<I>r</I><SUP>2</SUP>=1) with another reported SNP rs1052990. Expression quantitative trait loci (eQTL) analysis was performed using GENe Expression VARiation (Genevar) data.</P><P><B>Results</B></P><P>Both SNPs were associated with HTG susceptibility, but the rs4236601 association disappeared when adjusted for the rs17588172 genotype and not vice versa. The minor allele G of rs17588172 was associated significantly with 1.5-fold increased susceptibility to HTG (p=0.0069) and marginally with IOP elevation (p=0.043) versus the major allele T. This minor allele was also associated with decreased <I>CAV1</I> and <I>CAV2</I> mRNA in skin and adipose according to the Genevar eQTL analysis.</P><P><B>Conclusions</B></P><P>The minor allele G of rs17588172 in the <I>CAV1</I>-<I>CAV2</I> locus is associated with decreased expression of <I>CAV1</I> and <I>CAV2</I> in some tissues, marginally with IOP elevation, and consequently with increased susceptibility to HTG.</P>
Kim, Kyunglan,Yun, Yong-jun,Kim, Sewon,Kim, Jong-Sung,Kim, Chang-sik,Kang, Changwon Molecular Vision 2011 Molecular vision Vol.17 No.-
<P><B>Purpose</B></P><P>Susceptibility to primary open-angle glaucoma (POAG) has recently associated with three intergenic single-nucleotide polymorphisms (SNPs) on human chromosome 2p16.3, just outside of the POAG-linkage locus GLC1H (2p15–16.2), in an Afro-Caribbean population. Especially, association of one SNP (rs12994401) was very strong (odds ratio 35) and later replicated in Afro-Americans but not in Ghanaians or Japanese. An extended region was examined in this study to look for SNPs of cross-population association.</P><P><B>Methods</B></P><P>The three reported SNPs and all 63 SNPs considerably correlating with rs12994401 (r<SUP>2</SUP>≥0.3) in the African-descendent Yoruba were examined for POAG susceptibility association in a Korean population of 1,159 unrelated participants including 226 cases with glaucoma. As these 66 SNPs were spread from 2p14 to 2p21, all SNPs in this extended region were imputed for susceptibility association tests.</P><P><B>Results</B></P><P>No susceptibility association was detected with rs12994401 in comparisons between 933 controls and 188 POAG (or 175 high-tension glaucoma) cases (statistical power of 100%), as well as with all 19 other typed SNPs, using logistic regression with adjustment for age and gender. The other 46 SNPs were deemed non-polymorphic in Koreans. Among 21,201 SNPs located in 2p14–21, only 4,260 were imputed to be non-monomorphic, but none of them passed a significance level of multiple testing. No association was observed when the samples were stratified by age or gender.</P><P><B>Conclusions</B></P><P>No typed or imputed SNPs within 2p14–21 showed association with susceptibility to POAG, suggesting that the population inconsistency in 2p16.3 association was unlikely due to linkage disequilibrium differences.</P>