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首页> 外文期刊>Ophthalmic genetics >Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population
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Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

机译：汉族人口高近视遗传变异性遗传变异与MYP15的关联

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摘要

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM. Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71-0.93; P = .016, OR = 0.73, 95%CI = 0.56-0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71-0.94; P = .006, OR = 0.74, 95%CI = 0.59-0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84). Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.
机译：背景：以前的全基因组协会研究（GWAs）揭示了在10Q21.1的8P23和MYP15和法国人口中的高近视（HM）之间的关联。该研究设法发现某些单一核苷酸多态性（位于Myp10和Myp15）和Han Chinese HM之间的连接。方法和结果：本病例对照协会研究含有1673个样品，其中包括869名眼科患者和804例对照。已从MyP10和MyP15 Loci中选择12个标记SNP，并通过快照方法进行基因分型。在12个SNP中，TNKS基因的RS4840437和RS6989782与HM显着结合。 RS4840437G等位基因的载体和RS4840437GG基因型产生了低近视的低风险（P = .036，或= 0.81,95％CI = 0.71-0.93; P = .016，或= 0.73,95％CI = 0.56-0.96; ）。 RS6989782T等位基因的载体和RS6989782TT + CT基因型也具有降低的高近视风险（P = .048，或= 0.82,95％CI = 0.71-0.94; P = .006，或= 0.74,95％CI = 0.59- 0.92;分别为0.92）。其他10个SNP与HM流离失所无情的关联。另外，在TNK中的两个SNP产生的风险单倍型AC和保护性单倍型GT相当可能与HM相关（对于AC，P = .002和或= 1.26;对于GT，P = .027和或= 0.84）。结论：我们的结果表明，TNKS基因中的一些可遗传变体与汉族人群中的HM相关。 TNKS在遗传性高近视的发育和发病机制中的可能功能仍需要进一步研究来识别。

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  • 来源
    《Ophthalmic genetics》 |2019年第3期|共5页
  • 作者

    Jiang Lingxi; Zheng Rui; Luo Dongyan; Wang Tingting; Zhai Yaru; Ye Zimeng; Liu Xiaoqi; Gong Bo; Qu Chao; Shi Yi;

  • 作者单位

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Sichuan Acad Med Sci Dept Ophthalmol Chengdu Sichuan Peoples R China;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

    Sichuan Acad Med Sci Dept Ophthalmol Chengdu Sichuan Peoples R China;

    Univ Elect Sci &

    Technol China Sch Med Sichuan Acad Med Sci Dept Clin Lab Sichuan Prov Key Lab;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 眼科学;
  • 关键词

    High myopia; SNP; association study; TNKS gene;

    机译：高近视;SNP;协会研究;TNKS基因;
  • 入库时间 2022-08-20 05:21:01

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