The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form

L.I. Paraoan; J. Butler; N. Narendran; Y.C. Yang

The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form

L.I. Paraoan, J. Butler, N. Narendran, Y.C. Yang

Biology

Research output: Contribution to conference › Abstract › peer-review

Abstract

Purpose : A missense SNP (rs1064039) in the cystatin C gene (CST3) is known to be associated with both AMD and Alzheimer’s disease (AD). A previously published GWAS (n= 9,978) identified that a SNP (rs6048952) adjacent to CST3 (11.2kb downstream of the aforementioned missense SNP) is associated with cystatin C plasma level. We undertook a linkage disequilibrium (LD) analysis around the CST3 locus to determine if LD exists between the two SNPs. Subsequent deduction of haplotypes will shed light on the directionality of the relationship between the two phenotypes: AMD/AD risk and cystatin C plasma levels.

Original language	English
Publication status	Published - 30 Sept 2016
Event	ARVO Annual Meeting 2016 - Seattle, United States Duration: 1 May 2016 → 5 May 2016

Conference

Conference	ARVO Annual Meeting 2016
Country/Territory	United States
City	Seattle
Period	1/05/16 → 5/05/16

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Paraoan, L. I., Butler, J., Narendran, N., & Yang, Y. C. (2016). The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form. Abstract from ARVO Annual Meeting 2016, Seattle, United States. https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000394174002069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f3ec48df247ee1138ccd8d3ba59bacc2

@conference{11bcacfa5c01479db1657da1109ae2f9,

title = "The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form",

abstract = "Purpose : A missense SNP (rs1064039) in the cystatin C gene (CST3) is known to be associated with both AMD and Alzheimer{\textquoteright}s disease (AD). A previously published GWAS (n= 9,978) identified that a SNP (rs6048952) adjacent to CST3 (11.2kb downstream of the aforementioned missense SNP) is associated with cystatin C plasma level. We undertook a linkage disequilibrium (LD) analysis around the CST3 locus to determine if LD exists between the two SNPs. Subsequent deduction of haplotypes will shed light on the directionality of the relationship between the two phenotypes: AMD/AD risk and cystatin C plasma levels.",

author = "L.I. Paraoan and J. Butler and N. Narendran and Y.C. Yang",

year = "2016",

month = sep,

day = "30",

language = "English",

note = "ARVO Annual Meeting 2016 ; Conference date: 01-05-2016 Through 05-05-2016",

}

Paraoan, LI, Butler, J, Narendran, N & Yang, YC 2016, 'The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form', ARVO Annual Meeting 2016, Seattle, United States, 1/05/16 - 5/05/16. <https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000394174002069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f3ec48df247ee1138ccd8d3ba59bacc2>

TY - CONF

T1 - The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form

AU - Paraoan, L.I.

AU - Butler, J.

AU - Narendran, N.

AU - Yang, Y.C.

PY - 2016/9/30

Y1 - 2016/9/30

N2 - Purpose : A missense SNP (rs1064039) in the cystatin C gene (CST3) is known to be associated with both AMD and Alzheimer’s disease (AD). A previously published GWAS (n= 9,978) identified that a SNP (rs6048952) adjacent to CST3 (11.2kb downstream of the aforementioned missense SNP) is associated with cystatin C plasma level. We undertook a linkage disequilibrium (LD) analysis around the CST3 locus to determine if LD exists between the two SNPs. Subsequent deduction of haplotypes will shed light on the directionality of the relationship between the two phenotypes: AMD/AD risk and cystatin C plasma levels.

AB - Purpose : A missense SNP (rs1064039) in the cystatin C gene (CST3) is known to be associated with both AMD and Alzheimer’s disease (AD). A previously published GWAS (n= 9,978) identified that a SNP (rs6048952) adjacent to CST3 (11.2kb downstream of the aforementioned missense SNP) is associated with cystatin C plasma level. We undertook a linkage disequilibrium (LD) analysis around the CST3 locus to determine if LD exists between the two SNPs. Subsequent deduction of haplotypes will shed light on the directionality of the relationship between the two phenotypes: AMD/AD risk and cystatin C plasma levels.

M3 - Abstract

T2 - ARVO Annual Meeting 2016

Y2 - 1 May 2016 through 5 May 2016

ER -

The cysteine proteinase inhibitor cystatin C harbors a haplotype associated with increased risk of AMD and Alzheimer's disease and decreased plasma levels of its mature form

Abstract

Conference

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