A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract

Cheng Chang, Kaida Zhang, Abirami Veluchamy, Harry L Hébert, Helen C Looker, Helen M Colhoun, Colin N A Palmer, Weihua Meng (Lead / Corresponding author)

    Research output: Contribution to journalArticle

    2 Citations (Scopus)
    79 Downloads (Pure)

    Abstract

    PURPOSE: Diabetic cataract is one of the major eye complications of diabetes. It was reported that cataract occurs two to five times more frequently in patients with diabetes compared with those with no diabetes. The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.

    METHODS: We adapted linked e-health records to define diabetic cataract. A diabetic cataract case in this study was defined as a type 2 diabetic patient who has ever been recorded in the linked e-health records to have cataracts in both eyes or who had previous cataract extraction surgeries in at least one eye. A control in this study was defined as a type 2 diabetic individual who has never been diagnosed as cataract in the linked e-health records and had no history of cataract surgeries. A standard genome-wide association approach was applied.

    RESULTS: Overall, we have 2341 diabetic cataract cases and 2878 controls in the genetics of diabetes audit and research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs2283290 in the CACNA1C gene was 8.81 × 10-10, which has reached genome-wide significance. We also identified that the blood calcium level was statistically different between diabetic cataract cases and controls.

    CONCLUSIONS: We identified supporting evidence that CACNA1C gene is associated with diabetic cataract. The role of calcium in the cataractogenesis needs to be reevaluated in future studies.

    Original languageEnglish
    Pages (from-to)2246-50
    Number of pages5
    JournalInvestigative Ophthalmology & Visual Science
    Volume57
    Issue number4
    DOIs
    Publication statusPublished - 1 Apr 2016

    Fingerprint

    Genome-Wide Association Study
    Cataract
    Genes
    Genome
    Health
    Calcium
    Cataract Extraction
    Scotland
    Diabetes Complications

    Keywords

    • genome-wide association study
    • cataract
    • diabetes
    • genetics

    Cite this

    @article{b016e02db00b4018b1c95a8df776c924,
    title = "A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract",
    abstract = "PURPOSE: Diabetic cataract is one of the major eye complications of diabetes. It was reported that cataract occurs two to five times more frequently in patients with diabetes compared with those with no diabetes. The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.METHODS: We adapted linked e-health records to define diabetic cataract. A diabetic cataract case in this study was defined as a type 2 diabetic patient who has ever been recorded in the linked e-health records to have cataracts in both eyes or who had previous cataract extraction surgeries in at least one eye. A control in this study was defined as a type 2 diabetic individual who has never been diagnosed as cataract in the linked e-health records and had no history of cataract surgeries. A standard genome-wide association approach was applied.RESULTS: Overall, we have 2341 diabetic cataract cases and 2878 controls in the genetics of diabetes audit and research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs2283290 in the CACNA1C gene was 8.81 × 10-10, which has reached genome-wide significance. We also identified that the blood calcium level was statistically different between diabetic cataract cases and controls.CONCLUSIONS: We identified supporting evidence that CACNA1C gene is associated with diabetic cataract. The role of calcium in the cataractogenesis needs to be reevaluated in future studies.",
    keywords = "genome-wide association study, cataract, diabetes, genetics",
    author = "Cheng Chang and Kaida Zhang and Abirami Veluchamy and H{\'e}bert, {Harry L} and Looker, {Helen C} and Colhoun, {Helen M} and Palmer, {Colin N A} and Weihua Meng",
    note = "Supported by the GoDARTS project that was jointly supported by DIABETES UK and The Wellcome Trust, and by Tenovus small grant 2015 T15/40.",
    year = "2016",
    month = "4",
    day = "1",
    doi = "10.1167/iovs.16-19332",
    language = "English",
    volume = "57",
    pages = "2246--50",
    journal = "Investigative Ophthalmology & Visual Science",
    issn = "0146-0404",
    publisher = "Association for Research in Vision and Ophthalmology",
    number = "4",

    }

    A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract. / Chang, Cheng; Zhang, Kaida; Veluchamy, Abirami; Hébert, Harry L; Looker, Helen C; Colhoun, Helen M; Palmer, Colin N A; Meng, Weihua (Lead / Corresponding author).

    In: Investigative Ophthalmology & Visual Science, Vol. 57, No. 4, 01.04.2016, p. 2246-50.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract

    AU - Chang, Cheng

    AU - Zhang, Kaida

    AU - Veluchamy, Abirami

    AU - Hébert, Harry L

    AU - Looker, Helen C

    AU - Colhoun, Helen M

    AU - Palmer, Colin N A

    AU - Meng, Weihua

    N1 - Supported by the GoDARTS project that was jointly supported by DIABETES UK and The Wellcome Trust, and by Tenovus small grant 2015 T15/40.

    PY - 2016/4/1

    Y1 - 2016/4/1

    N2 - PURPOSE: Diabetic cataract is one of the major eye complications of diabetes. It was reported that cataract occurs two to five times more frequently in patients with diabetes compared with those with no diabetes. The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.METHODS: We adapted linked e-health records to define diabetic cataract. A diabetic cataract case in this study was defined as a type 2 diabetic patient who has ever been recorded in the linked e-health records to have cataracts in both eyes or who had previous cataract extraction surgeries in at least one eye. A control in this study was defined as a type 2 diabetic individual who has never been diagnosed as cataract in the linked e-health records and had no history of cataract surgeries. A standard genome-wide association approach was applied.RESULTS: Overall, we have 2341 diabetic cataract cases and 2878 controls in the genetics of diabetes audit and research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs2283290 in the CACNA1C gene was 8.81 × 10-10, which has reached genome-wide significance. We also identified that the blood calcium level was statistically different between diabetic cataract cases and controls.CONCLUSIONS: We identified supporting evidence that CACNA1C gene is associated with diabetic cataract. The role of calcium in the cataractogenesis needs to be reevaluated in future studies.

    AB - PURPOSE: Diabetic cataract is one of the major eye complications of diabetes. It was reported that cataract occurs two to five times more frequently in patients with diabetes compared with those with no diabetes. The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.METHODS: We adapted linked e-health records to define diabetic cataract. A diabetic cataract case in this study was defined as a type 2 diabetic patient who has ever been recorded in the linked e-health records to have cataracts in both eyes or who had previous cataract extraction surgeries in at least one eye. A control in this study was defined as a type 2 diabetic individual who has never been diagnosed as cataract in the linked e-health records and had no history of cataract surgeries. A standard genome-wide association approach was applied.RESULTS: Overall, we have 2341 diabetic cataract cases and 2878 controls in the genetics of diabetes audit and research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs2283290 in the CACNA1C gene was 8.81 × 10-10, which has reached genome-wide significance. We also identified that the blood calcium level was statistically different between diabetic cataract cases and controls.CONCLUSIONS: We identified supporting evidence that CACNA1C gene is associated with diabetic cataract. The role of calcium in the cataractogenesis needs to be reevaluated in future studies.

    KW - genome-wide association study

    KW - cataract

    KW - diabetes

    KW - genetics

    UR - http://iovs.arvojournals.org/article.aspx?articleid=2519755

    U2 - 10.1167/iovs.16-19332

    DO - 10.1167/iovs.16-19332

    M3 - Article

    VL - 57

    SP - 2246

    EP - 2250

    JO - Investigative Ophthalmology & Visual Science

    JF - Investigative Ophthalmology & Visual Science

    SN - 0146-0404

    IS - 4

    ER -