title: Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
abstract: Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P(meta) = 7.87×10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations.
authors.affiliation: School of Public Health, National University of Singapore, Singapore, Singapore.
authors.forename: Qiao
authors.initials: Q
authors.lastname: Fan
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
authors.forename: Chiea-Chuen
authors.initials: CC
authors.lastname: Khor
authors.forename: Ching-Yu
authors.initials: CY
authors.lastname: Cheng
authors.forename: Liang-Kee
authors.initials: LK
authors.lastname: Goh
authors.forename: Xueling
authors.initials: X
authors.lastname: Sim
authors.forename: Wan-Ting
authors.initials: WT
authors.lastname: Tay
authors.forename: Yi-Ju
authors.initials: YJ
authors.lastname: Li
authors.forename: Rick Twee-Hee
authors.initials: RT
authors.lastname: Ong
authors.forename: Chen
authors.initials: C
authors.lastname: Suo
authors.forename: Belinda
authors.initials: B
authors.lastname: Cornes
authors.forename: Mohammad Kamran
authors.initials: MK
authors.lastname: Ikram
authors.forename: Kee-Seng
authors.initials: KS
authors.lastname: Chia
authors.forename: Mark
authors.initials: M
authors.lastname: Seielstad
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Eranga
authors.initials: E
authors.lastname: Vithana
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
authors.forename: E-Shyong
authors.initials: ES
authors.lastname: Tai
authors.forename: Tien-Yin
authors.initials: TY
authors.lastname: Wong
authors.forename: Tin
authors.initials: T
authors.lastname: Aung
authors.forename: Yik-Ying
authors.initials: YY
authors.lastname: Teo
authors.forename: Seang-Mei
authors.initials: SM
authors.lastname: Saw
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001208:Asia; D001251:Astigmatism / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D012030:Refractive Errors / Q000235:genetics* / Q000473:pathology
chemical_list: D020796:Receptor, Platelet-Derived Growth Factor alpha