A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population

Weihua Meng (Lead / Corresponding author), Jacqueline Butterworth, Declan T. Bradley, Anne E. Hughes, Vincent Soler, Patrick Calvas (Lead / Corresponding author), Francois Malecaze (Lead / Corresponding author)

    Research output: Contribution to journalArticle

    27 Citations (Scopus)

    Abstract

    PURPOSE. Myopia is a complex trait affected by both genetic and environmental factors. High myopia is associated with increased risk of sight threatening eye disorders such as retinal detachment. The purpose of this genome-wide association study was to identify susceptibility genes contributing to high myopia in the French population.

    METHODS. High myopic cases were genotyped using Affymetrix SNP 6.0 chips and population controls were selected from the GABRIEL French dataset, in which samples were genotyped by Illumina Human610 quad array. The association study was conducted using 152,234 single nucleotide polymorphisms that were present on both manufacturers' chips in 192 high myopic cases and 1064 controls to identify associated regions. Imputation was performed on peak regions.

    RESULTS. Associations were found at known myopia locus MYP10 on chromosome 8p23 and MYP15 on chromosome 10q21.1. Rs189798 (8p23), and rs10825992 (10q21.1) showed the strongest associations in these regions (P = 6.32 x 10(-7) and P = 2.17 x 10(-5), respectively). The imputed results at 8p23 showed two peaks of interest. The first spanned 30 kb including rs189798 between MIR4660 and PPP1R3B with the most significant association at rs17155227 (P = 1.07 x 10(-10)). The second novel peak was 4 kb in length, encompassing MIR124-1 and the MSRA gene, with the strongest association at rs55864141 (P = 1.30 x 10(-7)). The peak of imputed data at 10q21.1 was 70 kb in length between ZWINT and MIR3924, with rs3107503 having the lowest P value (P = 1.54 x 10(-7)).

    CONCLUSIONS. We provide evidence for the association of MYP10 at 8p23 and MYP15 at 10p21.1 with high myopia in the French population and refine these regions of association. (Invest Ophthalmol Vis Sci. 2012;53:7983-7988) DOI: 10.1167/iovs.12-10409

    Original languageEnglish
    Pages (from-to)7983-7988
    Number of pages6
    JournalInvestigative Ophthalmology & Visual Science
    Volume53
    Issue number13
    DOIs
    Publication statusPublished - 5 Dec 2012

    Keywords

    • LARGE-SCALE
    • GENETIC-VARIANTS
    • HIGH-GRADE MYOPIA
    • MICRORNAS
    • EXPRESSION
    • LENS
    • COMMON VARIANTS
    • SULFOXIDE-REDUCTASE-A
    • SUSCEPTIBILITY LOCUS
    • SYNDROME TYPE 1F

    Cite this

    Meng, Weihua ; Butterworth, Jacqueline ; Bradley, Declan T. ; Hughes, Anne E. ; Soler, Vincent ; Calvas, Patrick ; Malecaze, Francois. / A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population. In: Investigative Ophthalmology & Visual Science. 2012 ; Vol. 53, No. 13. pp. 7983-7988.
    @article{cbbbeeeb40184377a374130017a5443a,
    title = "A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population",
    abstract = "PURPOSE. Myopia is a complex trait affected by both genetic and environmental factors. High myopia is associated with increased risk of sight threatening eye disorders such as retinal detachment. The purpose of this genome-wide association study was to identify susceptibility genes contributing to high myopia in the French population.METHODS. High myopic cases were genotyped using Affymetrix SNP 6.0 chips and population controls were selected from the GABRIEL French dataset, in which samples were genotyped by Illumina Human610 quad array. The association study was conducted using 152,234 single nucleotide polymorphisms that were present on both manufacturers' chips in 192 high myopic cases and 1064 controls to identify associated regions. Imputation was performed on peak regions.RESULTS. Associations were found at known myopia locus MYP10 on chromosome 8p23 and MYP15 on chromosome 10q21.1. Rs189798 (8p23), and rs10825992 (10q21.1) showed the strongest associations in these regions (P = 6.32 x 10(-7) and P = 2.17 x 10(-5), respectively). The imputed results at 8p23 showed two peaks of interest. The first spanned 30 kb including rs189798 between MIR4660 and PPP1R3B with the most significant association at rs17155227 (P = 1.07 x 10(-10)). The second novel peak was 4 kb in length, encompassing MIR124-1 and the MSRA gene, with the strongest association at rs55864141 (P = 1.30 x 10(-7)). The peak of imputed data at 10q21.1 was 70 kb in length between ZWINT and MIR3924, with rs3107503 having the lowest P value (P = 1.54 x 10(-7)).CONCLUSIONS. We provide evidence for the association of MYP10 at 8p23 and MYP15 at 10p21.1 with high myopia in the French population and refine these regions of association. (Invest Ophthalmol Vis Sci. 2012;53:7983-7988) DOI: 10.1167/iovs.12-10409",
    keywords = "LARGE-SCALE, GENETIC-VARIANTS, HIGH-GRADE MYOPIA, MICRORNAS, EXPRESSION, LENS, COMMON VARIANTS, SULFOXIDE-REDUCTASE-A, SUSCEPTIBILITY LOCUS, SYNDROME TYPE 1F",
    author = "Weihua Meng and Jacqueline Butterworth and Bradley, {Declan T.} and Hughes, {Anne E.} and Vincent Soler and Patrick Calvas and Francois Malecaze",
    year = "2012",
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    A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population. / Meng, Weihua (Lead / Corresponding author); Butterworth, Jacqueline; Bradley, Declan T.; Hughes, Anne E.; Soler, Vincent; Calvas, Patrick (Lead / Corresponding author); Malecaze, Francois (Lead / Corresponding author).

    In: Investigative Ophthalmology & Visual Science, Vol. 53, No. 13, 05.12.2012, p. 7983-7988.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - A Genome-Wide Association Study Provides Evidence for Association of Chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with High Myopia in the French Population

    AU - Meng, Weihua

    AU - Butterworth, Jacqueline

    AU - Bradley, Declan T.

    AU - Hughes, Anne E.

    AU - Soler, Vincent

    AU - Calvas, Patrick

    AU - Malecaze, Francois

    PY - 2012/12/5

    Y1 - 2012/12/5

    N2 - PURPOSE. Myopia is a complex trait affected by both genetic and environmental factors. High myopia is associated with increased risk of sight threatening eye disorders such as retinal detachment. The purpose of this genome-wide association study was to identify susceptibility genes contributing to high myopia in the French population.METHODS. High myopic cases were genotyped using Affymetrix SNP 6.0 chips and population controls were selected from the GABRIEL French dataset, in which samples were genotyped by Illumina Human610 quad array. The association study was conducted using 152,234 single nucleotide polymorphisms that were present on both manufacturers' chips in 192 high myopic cases and 1064 controls to identify associated regions. Imputation was performed on peak regions.RESULTS. Associations were found at known myopia locus MYP10 on chromosome 8p23 and MYP15 on chromosome 10q21.1. Rs189798 (8p23), and rs10825992 (10q21.1) showed the strongest associations in these regions (P = 6.32 x 10(-7) and P = 2.17 x 10(-5), respectively). The imputed results at 8p23 showed two peaks of interest. The first spanned 30 kb including rs189798 between MIR4660 and PPP1R3B with the most significant association at rs17155227 (P = 1.07 x 10(-10)). The second novel peak was 4 kb in length, encompassing MIR124-1 and the MSRA gene, with the strongest association at rs55864141 (P = 1.30 x 10(-7)). The peak of imputed data at 10q21.1 was 70 kb in length between ZWINT and MIR3924, with rs3107503 having the lowest P value (P = 1.54 x 10(-7)).CONCLUSIONS. We provide evidence for the association of MYP10 at 8p23 and MYP15 at 10p21.1 with high myopia in the French population and refine these regions of association. (Invest Ophthalmol Vis Sci. 2012;53:7983-7988) DOI: 10.1167/iovs.12-10409

    AB - PURPOSE. Myopia is a complex trait affected by both genetic and environmental factors. High myopia is associated with increased risk of sight threatening eye disorders such as retinal detachment. The purpose of this genome-wide association study was to identify susceptibility genes contributing to high myopia in the French population.METHODS. High myopic cases were genotyped using Affymetrix SNP 6.0 chips and population controls were selected from the GABRIEL French dataset, in which samples were genotyped by Illumina Human610 quad array. The association study was conducted using 152,234 single nucleotide polymorphisms that were present on both manufacturers' chips in 192 high myopic cases and 1064 controls to identify associated regions. Imputation was performed on peak regions.RESULTS. Associations were found at known myopia locus MYP10 on chromosome 8p23 and MYP15 on chromosome 10q21.1. Rs189798 (8p23), and rs10825992 (10q21.1) showed the strongest associations in these regions (P = 6.32 x 10(-7) and P = 2.17 x 10(-5), respectively). The imputed results at 8p23 showed two peaks of interest. The first spanned 30 kb including rs189798 between MIR4660 and PPP1R3B with the most significant association at rs17155227 (P = 1.07 x 10(-10)). The second novel peak was 4 kb in length, encompassing MIR124-1 and the MSRA gene, with the strongest association at rs55864141 (P = 1.30 x 10(-7)). The peak of imputed data at 10q21.1 was 70 kb in length between ZWINT and MIR3924, with rs3107503 having the lowest P value (P = 1.54 x 10(-7)).CONCLUSIONS. We provide evidence for the association of MYP10 at 8p23 and MYP15 at 10p21.1 with high myopia in the French population and refine these regions of association. (Invest Ophthalmol Vis Sci. 2012;53:7983-7988) DOI: 10.1167/iovs.12-10409

    KW - LARGE-SCALE

    KW - GENETIC-VARIANTS

    KW - HIGH-GRADE MYOPIA

    KW - MICRORNAS

    KW - EXPRESSION

    KW - LENS

    KW - COMMON VARIANTS

    KW - SULFOXIDE-REDUCTASE-A

    KW - SUSCEPTIBILITY LOCUS

    KW - SYNDROME TYPE 1F

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    U2 - 10.1167/iovs.12-10409

    DO - 10.1167/iovs.12-10409

    M3 - Article

    VL - 53

    SP - 7983

    EP - 7988

    JO - Investigative Ophthalmology & Visual Science

    JF - Investigative Ophthalmology & Visual Science

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    ER -