scholarly journals MGST2andWNT2are candidate genes for comitant strabismus susceptibility in Japanese patients

PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e3935 ◽  
Author(s):  
Jingjing Zhang ◽  
Toshihiko Matsuo

Background/AimStrabismus 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.MethodsFrom 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.ResultsThe SNPs with significantPvalues 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 theST7toWNT2region in the same big haplotype block contained significant SNPs for all three methods of linkage analysis.ConclusionsThis study suggests thatMGST2andWNT2are potential candidates for comitant strabismus in Japanese population.


2007 ◽  
Vol 22 (10) ◽  
pp. 1185-1194 ◽  
Author(s):  
Hao Zhang ◽  
Ling-Hong Liao ◽  
Shuk-Ming Liu ◽  
Kwok-Wai Lau ◽  
Albert Kai-Cheong Lai ◽  
...  


2004 ◽  
Vol 149 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Jie Zhang ◽  
Zhiwei Ye ◽  
Yijia Lou




PROTEOMICS ◽  
2006 ◽  
Vol 6 (3) ◽  
pp. 804-816 ◽  
Author(s):  
Markus Islinger ◽  
Georg H. Lüers ◽  
Hans Zischka ◽  
Marius Ueffing ◽  
Alfred Völkl




Blood ◽  
1996 ◽  
Vol 87 (5) ◽  
pp. 2071-2074 ◽  
Author(s):  
A Hirono ◽  
H Iyori ◽  
I Sekine ◽  
J Ueyama ◽  
H Chiba ◽  
...  

Abstract Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel of RBC enzyme assays showed that one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine synthetase. Some family members of each patient showed mild deficiency of the respective enzymes. RBCs of these patients also showed a decreased level of glutathione-S-transferase as in previously described GSH-deficient cases. Hemolytic anemia was their only manifestation, and neither 5- oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients.



2020 ◽  
Vol 121 ◽  
pp. 109562 ◽  
Author(s):  
Baozhen Zeng ◽  
Chunlei Ge ◽  
Ruilei Li ◽  
Zhiwei Zhang ◽  
Qiaofen Fu ◽  
...  


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