MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients

Background/Aim Strabismus is a common condition with misalignment between two eyes that may lead to decrease of visual acuity, lack of binocularity, and diplopia. It is caused by heterogeneous environmental and genetic risk factors. Our previous research has identified new chromosomal susceptibility...

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Main Authors: Jingjing Zhang, Toshihiko Matsuo
Format: Article
Language:English
Published: PeerJ Inc. 2017-10-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/3935.pdf
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author Jingjing Zhang
Toshihiko Matsuo
author_facet Jingjing Zhang
Toshihiko Matsuo
author_sort Jingjing Zhang
collection DOAJ
description Background/Aim Strabismus is a common condition with misalignment between two eyes that may lead to decrease of visual acuity, lack of binocularity, and diplopia. It is caused by heterogeneous environmental and genetic risk factors. Our previous research has identified new chromosomal susceptibility loci in 4q28.3 and 7q31.2 regions for comitant strabismus in Japanese families. We conducted a verification study by linkage analysis to narrow the chromosomal loci down to a single gene. Methods From Japanese and U.S. databases, 24 rsSNPs and 233 rsSNPs were chosen from the 4q28.3 and 7q31.2 region, respectively, and were typed in 108 affected subjects and 96 unaffected subjects of 58 families with primary and non-syndromic comitant strabismus. Three major analytical methods were used: transmission disequilibrium test (TDT), TDT allowing for errors (TDTae), and linkage analysis under dominant and recessive inheritance. Results The SNPs with significant P values in TDT and TDTae were located solely at the gene, microsomal glutathione S-transferase 2 (MGST2), on chromosome 4q28.3 locus. In contrast, significant SNPs were dispersed in a few genes, containing wingless-type MMTV integration site family member 2 (WNT2), on chromosome 7q31.2 locus. The distribution of significant SNPs on the 7q31.2 locus showed that only the ST7 to WNT2 region in the same big haplotype block contained significant SNPs for all three methods of linkage analysis. Conclusions This study suggests that MGST2 and WNT2 are potential candidates for comitant strabismus in Japanese population.
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spelling doaj.art-9c998b11baf0401abe522ef3afa167202023-12-03T09:46:11ZengPeerJ Inc.PeerJ2167-83592017-10-015e393510.7717/peerj.3935MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patientsJingjing Zhang0Toshihiko Matsuo1Department of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama City, Okayama, JapanDepartment of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama City, Okayama, JapanBackground/Aim Strabismus is a common condition with misalignment between two eyes that may lead to decrease of visual acuity, lack of binocularity, and diplopia. It is caused by heterogeneous environmental and genetic risk factors. Our previous research has identified new chromosomal susceptibility loci in 4q28.3 and 7q31.2 regions for comitant strabismus in Japanese families. We conducted a verification study by linkage analysis to narrow the chromosomal loci down to a single gene. Methods From Japanese and U.S. databases, 24 rsSNPs and 233 rsSNPs were chosen from the 4q28.3 and 7q31.2 region, respectively, and were typed in 108 affected subjects and 96 unaffected subjects of 58 families with primary and non-syndromic comitant strabismus. Three major analytical methods were used: transmission disequilibrium test (TDT), TDT allowing for errors (TDTae), and linkage analysis under dominant and recessive inheritance. Results The SNPs with significant P values in TDT and TDTae were located solely at the gene, microsomal glutathione S-transferase 2 (MGST2), on chromosome 4q28.3 locus. In contrast, significant SNPs were dispersed in a few genes, containing wingless-type MMTV integration site family member 2 (WNT2), on chromosome 7q31.2 locus. The distribution of significant SNPs on the 7q31.2 locus showed that only the ST7 to WNT2 region in the same big haplotype block contained significant SNPs for all three methods of linkage analysis. Conclusions This study suggests that MGST2 and WNT2 are potential candidates for comitant strabismus in Japanese population.https://peerj.com/articles/3935.pdfComitant strabismusLinkage analysisExotropiaEsotropiaCase-control association studyTransmission disequilibrium test allowing for errors (TDTae)
spellingShingle Jingjing Zhang
Toshihiko Matsuo
MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
PeerJ
Comitant strabismus
Linkage analysis
Exotropia
Esotropia
Case-control association study
Transmission disequilibrium test allowing for errors (TDTae)
title MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
title_full MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
title_fullStr MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
title_full_unstemmed MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
title_short MGST2 and WNT2 are candidate genes for comitant strabismus susceptibility in Japanese patients
title_sort mgst2 and wnt2 are candidate genes for comitant strabismus susceptibility in japanese patients
topic Comitant strabismus
Linkage analysis
Exotropia
Esotropia
Case-control association study
Transmission disequilibrium test allowing for errors (TDTae)
url https://peerj.com/articles/3935.pdf
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