Evaluation of FGF10 as a candidate gene for high myopia in a Han Chinese population

Lingxi Jiang; Dongyan Luo; Tingting Wang; Rui Zheng; Yaru Zhai; Xiaoqi Liu; Bo Gong; Zhengzheng Wu; Yin Yang; Zhenglin Yang; Yi Shi

doi:10.1186/s40662-019-0158-x

Evaluation of FGF10 as a candidate gene for high myopia in a Han Chinese population

Eye Vis (Lond). 2019 Oct 30:6:33. doi: 10.1186/s40662-019-0158-x. eCollection 2019.

Authors

Lingxi Jiang^#¹, Dongyan Luo^#¹, Tingting Wang¹, Rui Zheng¹, Yaru Zhai¹, Xiaoqi Liu¹, Bo Gong¹, Zhengzheng Wu², Yin Yang², Zhenglin Yang^{1

3}, Yi Shi^{1

3}

Affiliations

¹ Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, 610072 Sichuan China.
² 2Department of Ophthalmology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.
³ 3Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan China.

^# Contributed equally.

Abstract

Background: Fibroblast growth factor 10 (FGF10) is implicated in the growth and development of the eye. Four singles nucleotide polymorphisms (SNPs) in the FGF10 gene (including rs1384449, rs339501, rs12517396 and rs10462070) were found to be associated with extreme myopia (EM, refractive error ≤ - 10.0 diopters) in Japanese and Chinese Taiwan population. This case-control association study was conducted to explore the relationship between these four SNPs and high myopia in a western Chinese population.

Methods: A total of 869 high myopia patients (HM, including 485 EM patients) and 899 healthy controls were recruited. These four SNPs were genotyped using the ABI SNaPshot method. Five genetic models (allelic, homozygous, heterozygous, dominant, and recessive) were applied to further evaluate the possible correlation between the SNPs and high myopia. The linkage-disequilibrium block (LD) structure was tested by Haploview Software.

Results: In our study, no statistically significant differences were found between HM/EM patients and controls after Bonferroni multiple-correction (P > 0.05) in the allele frequencies of these four SNPs in the FGF10 gene. We further found that rs12517396AA and rs10462070GG carriers showed a decreased risk of HM/EM compared with rs12517396AC + CC and rs10462070GA + AA carriers (P = 0.045, OR = 0.366; P = 0.021, OR = 0.131; P = 0.03, OR = 0.341; P = 0.015, OR = 0.122; respectively). Additionally, rs12517396AA and rs10462070GG carriers showed the same decreased risk of HM/EM compared with rs12517396CC and rs10462070AA carriers (P = 0.048, OR = 0.370; P = 0.023, OR = 0.133; P = 0.032, OR = 0.346; P = 0.017, OR = 0.126). However, these significant associations between rs12517396/rs10462070 and HM/EM disappeared after Bonferroni multiple-correction (P > 0.05).

Conclusion: Our findings indicate that rs12517396 and rs10462070 had marginal association with HM and EM. The other two common polymorphisms in FGF10 unlikely have significant effects in the genetic predisposition to HM/EM in western Chinese population. Further replication studies are needed to validate our findings in both animal models and human genetic epidemiologic studies.

Keywords: Association study; Extreme myopia; Fibroblast growth factor 10; High myopia.