A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä
Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia (2021)
Tideman, J. W. L., Pärssinen, O., Haarman, A. E. G., Khawaja, A. P., Wedenoja, J., Williams, K. M., Biino, G., Ding, X., Kähönen, M., Lehtimäki, T., Raitakari, O. T., Cheng, C.-Y., Jonas, J. B., Young, T. L., Bailey-Wilson, J. E., Rahi, J., Williams, C., He, M., Mackey, D. A., & Guggenheim, J. A. (2021). Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia. JAMA Ophthalmology, 139(6), 601-609. https://doi.org/10.1001/jamaophthalmol.2021.0497
JYU-tekijät tai -toimittajat
Julkaisun tiedot
Julkaisun kaikki tekijät tai toimittajat: Tideman, J. Willem L.; Pärssinen, Olavi; Haarman, Annechien E. G.; Khawaja, Anthony P.; Wedenoja, Juho; Williams, Katie M.; Biino, Ginevra; Ding, Xiaohu; Kähönen, Mika; Lehtimäki, Terho; et al.
Lehti tai sarja: JAMA Ophthalmology
ISSN: 2168-6165
eISSN: 2168-6165
Julkaisuvuosi: 2021
Ilmestymispäivä: 08.04.2021
Volyymi: 139
Lehden numero: 6
Artikkelin sivunumerot: 601-609
Kustantaja: American Medical Association (AMA)
Julkaisumaa: Yhdysvallat (USA)
Julkaisun kieli: englanti
DOI: https://doi.org/10.1001/jamaophthalmol.2021.0497
Julkaisun avoin saatavuus: Ei avoin
Julkaisukanavan avoin saatavuus: Julkaisukanava ei ole avoin
Tiivistelmä
Objective To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia.
Design, Setting, and Participants This genetic association study assessed unrelated UK Biobank participants 40 to 69 years of age of European and Asian ancestry. Participants 40 to 69 years of age living in the United Kingdom were recruited from January 1, 2006, to October 31, 2010. Of the total sample of 502 682 participants, 117 279 (23.3%) underwent an ophthalmic assessment. Data analysis was performed from December 12, 2019, to June 23, 2020.
Exposures Four refractive error groups were defined: HM, −6.00 diopters (D) or less; LM, −3.00 to −1.00 D; hyperopia, +2.00 D or greater; and emmetropia, 0.00 to +1.00 D. Four genome-wide association study (GWAS) analyses were performed in participants of European ancestry: (1) HM vs emmetropia, (2) LM vs emmetropia, (3) hyperopia vs emmetropia, and (4) LM vs hyperopia. Polygenic risk scores were generated from GWAS summary statistics, yielding 4 sets of polygenic risk scores. Performance was assessed in independent replication samples of European and Asian ancestry.
Main Outcomes and Measures Odds ratios (ORs) of polygenic risk scores in replication samples.
Results A total of 51 841 unrelated individuals of European ancestry and 2165 unrelated individuals of Asian ancestry were assigned to a specific refractive error group and included in our analyses. Polygenic risk scores derived from all 4 GWAS analyses were predictive of all categories of refractive error in both European and Asian replication samples. For example, the polygenic risk score derived from the HM vs emmetropia GWAS was predictive in the European sample of HM vs emmetropia (OR, 1.58; 95% CI, 1.41-1.77; P = 1.54 × 10−15) as well as LM vs emmetropia (OR, 1.15; 95% CI, 1.07-1.23; P = 8.14 × 10−5), hyperopia vs emmetropia (OR, 0.83; 95% CI, 0.77-0.89; P = 4.18 × 10−7), and LM vs hyperopia (OR, 1.45; 95% CI, 1.33-1.59; P = 1.43 × 10−16).
Conclusions and Relevance Genetic risk variants were shared across HM, LM, and hyperopia and across European and Asian samples. Individuals with HM inherited a higher number of variants from among the same set of myopia-predisposing alleles and not different risk alleles compared with individuals with LM. These findings suggest that treatment interventions targeting common genetic risk variants associated with refractive error could be effective against both LM and HM.
YSO-asiasanat: taittovirheet; likinäköisyys; perinnöllinen alttius
Vapaat asiasanat: shared genetic susceptibility; myopia; hyperopia
Liittyvät organisaatiot
OKM-raportointi: Kyllä
Raportointivuosi: 2021
JUFO-taso: 2