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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
- Source :
- Li , Q , Wojciechowski , R , Simpson , CL , Hysi , PG , Verhoeven , V , Ikram , MK , Hohn , R , Vitart , V , Hewitt , AW , Oexle , K , Makela , KM , Macgregor , S , Pirastu , M , Fan , Q , Cheng , CY , St Pourcain , B , McMahon , G , Kemp , JP , Northstone , K , Rahi , JS , Cumberland , PM , Martin , NG , Sanfilippo , PG , Lu , Y , Wang , YX , Hayward , C , Polasek , O , Campbell , H , Bencic , G , Wright , AF , Wedenoja , J , Zeller , T , Schillert , A , Mirshahi , A , Lackner , K , Yip , SP , Yap , MKH , Ried , JS , Gieger , C , Murgia , F , Wilson , JF , Fleck , B , Yazar , S , Vingerling , H , Hofman , B , Uitterlinden , A , Rivadeneira , F , Amin , N , Karssen , L , Oostra , B , Zhou , X , Teo , YY , Tai , ES , Vithana , E , Barathi , V , Zheng , YF , Siantar , RG , Neelam , K , Shin , YC , Lam , J , Yonova-Doing , E , Venturini , C , Hosseini , SM , Wong , HS , Lehtimaki , T , Kahonen , M , Raitakari , O , Timpson , NJ , Evans , DM , Khor , CC , Aung , T , Young , TL , Mitchell , P , Klein , B , Duijn , C , Meitinger , T , Jonas , JB , Baird , PN , Mackey , DA , Wong , TY , Saw , SM , Parssinen , O , Stambolian , D , Hammond , CJ , Klaver , C , Williams , C , Paterson , AD , Bailey-Wilson , JE & Guggenheim , JA 2015 , ' Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium ' , Human Genetics , vol. 134 , no. 2 , pp. 131-146 .
- Publication Year :
- 2015
-
Abstract
- To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged < 25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged < 25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.
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- Journal :
- Li , Q , Wojciechowski , R , Simpson , CL , Hysi , PG , Verhoeven , V , Ikram , MK , Hohn , R , Vitart , V , Hewitt , AW , Oexle , K , Makela , KM , Macgregor , S , Pirastu , M , Fan , Q , Cheng , CY , St Pourcain , B , McMahon , G , Kemp , JP , Northstone , K , Rahi , JS , Cumberland , PM , Martin , NG , Sanfilippo , PG , Lu , Y , Wang , YX , Hayward , C , Polasek , O , Campbell , H , Bencic , G , Wright , AF , Wedenoja , J , Zeller , T , Schillert , A , Mirshahi , A , Lackner , K , Yip , SP , Yap , MKH , Ried , JS , Gieger , C , Murgia , F , Wilson , JF , Fleck , B , Yazar , S , Vingerling , H , Hofman , B , Uitterlinden , A , Rivadeneira , F , Amin , N , Karssen , L , Oostra , B , Zhou , X , Teo , YY , Tai , ES , Vithana , E , Barathi , V , Zheng , YF , Siantar , RG , Neelam , K , Shin , YC , Lam , J , Yonova-Doing , E , Venturini , C , Hosseini , SM , Wong , HS , Lehtimaki , T , Kahonen , M , Raitakari , O , Timpson , NJ , Evans , DM , Khor , CC , Aung , T , Young , TL , Mitchell , P , Klein , B , Duijn , C , Meitinger , T , Jonas , JB , Baird , PN , Mackey , DA , Wong , TY , Saw , SM , Parssinen , O , Stambolian , D , Hammond , CJ , Klaver , C , Williams , C , Paterson , AD , Bailey-Wilson , JE & Guggenheim , JA 2015 , ' Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium ' , Human Genetics , vol. 134 , no. 2 , pp. 131-146 .
- Notes :
- application/pdf, und
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1313618783
- Document Type :
- Electronic Resource