Yun-Chun Zou1, Jia-Hong Lei2, Ying Wang1, Shuang Xu1. 1. Department of Ophthalmology and Optometry, North Sichuan Medical College, Nanchong 637000, Sichuan Province, China. 2. Department of Laboratory Medicine, North Sichuan Medical College, Nanchong 637000, Sichuan Province, China.
Abstract
AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D ≤ spherical refraction ≤-8.00 D) and 100 sex-matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy-Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.
AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopiapatients (-0.75 D ≤ spherical refraction ≤-8.00 D) and 100 sex-matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy-Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.
Entities:
Keywords:
MFN1 gene; association analysis; myopia; single nucleotide polymorphism
Authors: Leslie Donovan; Padmaja Sankaridurg; Arthur Ho; Thomas Naduvilath; Earl L Smith; Brien A Holden Journal: Optom Vis Sci Date: 2012-01 Impact factor: 1.973
Authors: Pete A Williams; Malgorzata Piechota; Christopher von Ruhland; Elaine Taylor; James E Morgan; Marcela Votruba Journal: Brain Date: 2012-02-01 Impact factor: 13.501
Authors: Mohamed Dirani; Matthew Chamberlain; Sri N Shekar; Amirul F M Islam; Pam Garoufalis; Christine Y Chen; Robyn H Guymer; Paul N Baird Journal: Invest Ophthalmol Vis Sci Date: 2006-11 Impact factor: 4.799
Authors: Abbas M Solouki; Virginie J M Verhoeven; Cornelia M van Duijn; Annemieke J M H Verkerk; M Kamran Ikram; Pirro G Hysi; Dominiek D G Despriet; Leonieke M van Koolwijk; Lintje Ho; Wishal D Ramdas; Monika Czudowska; Robert W A M Kuijpers; Najaf Amin; Maksim Struchalin; Yurii S Aulchenko; Gabriel van Rij; Frans C C Riemslag; Terri L Young; David A Mackey; Timothy D Spector; Theo G M F Gorgels; Jacqueline J M Willemse-Assink; Aaron Isaacs; Rogier Kramer; Sigrid M A Swagemakers; Arthur A B Bergen; Andy A L J van Oosterhout; Ben A Oostra; Fernando Rivadeneira; André G Uitterlinden; Albert Hofman; Paulus T V M de Jong; Christopher J Hammond; Johannes R Vingerling; Caroline C W Klaver Journal: Nat Genet Date: 2010-09-12 Impact factor: 38.330
Authors: Ansgar Santel; Stephan Frank; Brigitte Gaume; Michael Herrler; Richard J Youle; Margaret T Fuller Journal: J Cell Sci Date: 2003-05-20 Impact factor: 5.285
Authors: Sara Cipolat; Olga Martins de Brito; Barbara Dal Zilio; Luca Scorrano Journal: Proc Natl Acad Sci U S A Date: 2004-10-27 Impact factor: 11.205
Authors: Milly S Tedja; Annechien E G Haarman; Magda A Meester-Smoor; Jaakko Kaprio; David A Mackey; Jeremy A Guggenheim; Christopher J Hammond; Virginie J M Verhoeven; Caroline C W Klaver Journal: Invest Ophthalmol Vis Sci Date: 2019-02-28 Impact factor: 4.799