Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population
Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population
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IGF1和IGF1R基因多态性与中国汉族人群高度近视的关系
DOI：
10.3109/13816810.2016.1145699
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发表时间：
2017-03
影响因子：
1.2
通讯作者：
Shi Yi
中科院分区：
文献类型：
--
作者：
Wang Pu;Liu Xiaoqi;Ye Zimeng;Gong Bo;Yang Yin;Zhang Dingding;Wu Xuemei;Zheng Hong;Li Yuanfeng;Yang Zhenglin;Shi Yi
摘要目的：胰岛素样生长因子1（IGF 1）和胰岛素样生长因子1受体（IGF 1 R）已被证明影响形觉剥夺性近视的发展。然而，这两个基因与高度近视之间的遗传关联在不同的研究中仍然不一致。本研究旨在探讨IGF 1和IGF 1 R与中国汉族人群高度近视的关系。研究方法：采用SNaPshot方法对1244例高度近视患者和1380例正常对照者的IGF 1和IGF 1 R基因的14个单核苷酸多态性（SNPs）进行基因分型。基因分型数据采用χ2检验，连锁不平衡区组结构采用Haploview软件进行分析。结果如下：经Bonferroni多重校正后，IGF 1和IGF 1 R SNPs的等位基因频率和基因型在患者组和对照组之间差异无统计学意义（p > 0.05）。然而，IGF 1基因中rs35766的G等位基因显示出对高度近视的保护作用（p = 0.015，校正p = 0.21，比值比[OR] = 0.77，95%CI = 0.70-0.97）。rs35766 GG和rs35766 GG +AG基因型携带者与rs35766 AA基因型携带者相比，高度近视的风险降低（分别为p = 0.012，OR = 0.65，95%CI = 0.47-0.91; p = 0.019，OR = 0.68，95%CI = 0.50-0.94）。结论：IGF 1和IGF 1 R基因的遗传变异可能与中国汉族人高度近视无关。IGF 1和IGF 1 R在近视发生发展中的作用有待进一步研究。
ABSTRACT Objectives: Insulin-like growth factor 1 (IGF1) and insulin-like growth factor 1 receptor (IGF1R) have been shown to influence the development of form-deprivation myopia. However, genetic association between these two genes and high myopia remains inconsistent in different studies. This study was conducted to investigate the association between IGF1and IGF1R and high myopia in a Han Chinese population. Methods: Fourteen single nucleotide polymorphisms (SNPs) in the IGF1 and IGF1R genes were genotyped by SNaPshot method in a Han Chinese subject group composed of 1244 high myopia patients and 1380 controls. The genotyping data was analyzed by χ2 test and the linkage disequilibrium block structure was examined by Haploview software. Results: There were no statistically significant differences in the allele frequencies of IGF1 and IGF1R SNPs and genotypes between patients and controls after Bonferroni multiple-correction (p > 0.05). However, the G allele of rs35766 in the IGF1 gene showed a protective effect for high myopia (p = 0.015, corrected p = 0.21, odds ratio [OR] = 0.77, 95% CI = 0.70–0.97). The carriers of rs35766GG and rs35766GG+AG genotypes displayed a decreased risk of high myopia compared with rs35766AA carriers (p = 0.012, OR = 0.65, 95% CI = 0.47–0.91; p = 0.019, OR = 0.68, 95% CI = 0.50–0.94, respectively). Conclusions: Genetic variants in the IGF1 and IGF1R genes might not be associated with high myopia in Han Chinese. Further studies are needed to verify the possible function of IGF1 and IGF1R in the development of myopia.
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影响因子：
3.9
作者：
Bartke, Andrzej
通讯作者：
Bartke, Andrzej
影响因子：
3.8
作者：
Perez-Munuzuri, A.;Fernandez-Lorenzo, J. R.;Fraga-Bermudez, J. M.
通讯作者：
Fraga-Bermudez, J. M.
13q12.12 基因变异与中国汉族人群高度近视相关
影响因子：
9.8
作者：
Shi, Yi;Qu, Jia;Yang, Zhenglin
通讯作者：
Yang, Zhenglin
影响因子：
3.9
作者：
Riedemann, J.;Macaulay, V. M.
通讯作者：
Macaulay, V. M.
影响因子：
30.8
作者：
V. Verhoeven;P. Hysi;R. Wojciechowski;Q. Fan;J. Guggenheim;René Höhn;S. Macgregor;A. Hewitt;A. Nag;Ching-Yu Cheng;Ekaterina Yonova-Doing;Xin Zhou;M. Ikram;Gabriëlle H S Buitendijk;George Mcmahon;J. Kemp;B. S. Pourcain;Claire L. Simpson;Kari-Matti Mäkelä;T. Lehtimäki;M. Kähönen;A. Paterson;S. M. Hosseini;H. Wong;Liang Xu;J. Jonas;O. Pärssinen;J. Wedenoja;S. Yip;Daniel W. H. Ho;C. Pang;L. J. Chen;K. Burdon;J. Craig;B. Klein;R. Klein;T. Haller;A. Metspalu;C. Khor;E. Tai;T. Aung;E. Vithana;W. Tay;V. Barathi;Peng Chen;Ruoying Li;Jiemin Liao;Yingfeng Zheng;R. T. Ong;A. Döring;David M. Evans;N. Timpson;A. Verkerk;T. Meitinger;O. Raitakari;F. Hawthorne;T. Spector;L. Karssen;M. Pirastu;F. Murgia;W. Ang;A. Mishra;G. Montgomery;C. Pennell;P. Cumberland;I. Cotlarciuc;P. Mitchell;Jie-Jin Wang;M. Schache;Sarayut Janmahasatian;R. Igo;J. Lass;E. Chew;S. Iyengar;T. Gorgels;I. Rudan;C. Hayward;A. Wright;O. Polašek;Z. Vatavuk;James F. Wilson;B. Fleck;T. Zeller;A. Mirshahi;Christian Müller;A. Uitterlinden;F. Rivadeneira;J. Vingerling;A. Hofman;B. Oostra;N. Amin;A. Bergen;Y. Teo;J. Rahi;V. Vitart;Cathy Williams;P. Baird;T. Wong;K. Oexle;Aharon Wegner;N. Pfeiffer;D. Mackey;T. Young;C. Duijn;S. Saw;J. Bailey-Wilson;D. Stambolian;C. Klaver;C. Hammond
通讯作者：
V. Verhoeven;P. Hysi;R. Wojciechowski;Q. Fan;J. Guggenheim;René Höhn;S. Macgregor;A. Hewitt;A. Nag;Ching-Yu Cheng;Ekaterina Yonova-Doing;Xin Zhou;M. Ikram;Gabriëlle H S Buitendijk;George Mcmahon;J. Kemp;B. S. Pourcain;Claire L. Simpson;Kari-Matti Mäkelä;T. Lehtimäki;M. Kähönen;A. Paterson;S. M. Hosseini;H. Wong;Liang Xu;J. Jonas;O. Pärssinen;J. Wedenoja;S. Yip;Daniel W. H. Ho;C. Pang;L. J. Chen;K. Burdon;J. Craig;B. Klein;R. Klein;T. Haller;A. Metspalu;C. Khor;E. Tai;T. Aung;E. Vithana;W. Tay;V. Barathi;Peng Chen;Ruoying Li;Jiemin Liao;Yingfeng Zheng;R. T. Ong;A. Döring;David M. Evans;N. Timpson;A. Verkerk;T. Meitinger;O. Raitakari;F. Hawthorne;T. Spector;L. Karssen;M. Pirastu;F. Murgia;W. Ang;A. Mishra;G. Montgomery;C. Pennell;P. Cumberland;I. Cotlarciuc;P. Mitchell;Jie-Jin Wang;M. Schache;Sarayut Janmahasatian;R. Igo;J. Lass;E. Chew;S. Iyengar;T. Gorgels;I. Rudan;C. Hayward;A. Wright;O. Polašek;Z. Vatavuk;James F. Wilson;B. Fleck;T. Zeller;A. Mirshahi;Christian Müller;A. Uitterlinden;F. Rivadeneira;J. Vingerling;A. Hofman;B. Oostra;N. Amin;A. Bergen;Y. Teo;J. Rahi;V. Vitart;Cathy Williams;P. Baird;T. Wong;K. Oexle;Aharon Wegner;N. Pfeiffer;D. Mackey;T. Young;C. Duijn;S. Saw;J. Bailey-Wilson;D. Stambolian;C. Klaver;C. Hammond