Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort.
BACKGROUND
We investigated whether polymorphism rs7555523 (A > C) in human transmembrane and coiled-coil domain 1 (TMCO1) gene is a risk factor for primary open angle glaucoma (POAG) in a Saudi cohort.


METHODS
A cohort of 87 unrelated POAG cases and 94 control subjects from Saudi Arabia were genotyped using Taq-Man® assay. The association of genotypes with POAG and other glaucoma specific clinical indices was investigated.


RESULTS
The genotype and allele frequency of polymorphism rs7555523 at TMCO1 did not show any statistically significant association with POAG as compared to controls. The minor allele frequency was 0.103 in cases and 0.085 in controls. Except for awareness of glaucoma (p = 0.036), no significant association of genotypes were seen with glaucoma specific clinical indices such as intraocular pressure (IOP), cup/disc ratio and number of anti-glaucoma medications used. Binary logistic regression analysis (adjusted for age and gender) showed that age was a significant indicator for the development of glaucoma in this group (adjusted odds ratio = 1.2; 95 % confidence interval = 1.078-1.157; p < 0.001).


CONCLUSIONS
Our study was unable to replicate the findings of previously reported association for polymorphism rs7555523 in TMCO1 with POAG and related clinical indices such as IOP and cup/disc ratio indicating that this variant is not a risk factor for POAG in the Saudi cohort.
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Altaf A
AA
Kondkar
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ahmed
A
Mousa
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Taif A
TA
Azad
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Tahira
T
Sultan
National Center for Stem Cell Technology (NCSCT), Life Sciences and Environmental Research Institute, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Abdullah
A
Alawad
SAAD Research & amp; Development Center, Clinical Research Lab., SAAD Specialist Hospital, Al Khobar, Saudi Arabia.|Qassim University, Burayadh, Saudi Arabia.
Saleh
S
Altuwaijri
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Saleh A
SA
Al-Obeidan
Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia. abuamero@gmail.com.|Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. abuamero@gmail.com.|Department of Ophthalmology, College of Medicine, Jacksonville, FL, USA. abuamero@gmail.com.
Khaled K
KK
Abu-Amero
POAG; Saudi Arabia; Transmembrane and coiled-coil domain 1; rs7555523
Int J Mol Sci. 2015 Dec 04;16(12 ):28886-911
26690118
Mol Biol Rep. 2010 Mar;37(3):1611-8
19449125
Ophthalmic Genet. 2014 Jun;35(2):85-90
23647424
Nat Genet. 2011 Jun;43(6):574-8
21532571
Invest Ophthalmol Vis Sci. 2013 Sep 17;54(9):6248-54
23963167
N Engl J Med. 2009 Mar 12;360(11):1113-24
19279343
Mol Cell Biol. 2014 Aug;34(16):3013-23
24891620
Mol Vis. 2006 Jul 12;12:774-90
16862071
Mol Vis. 2012;18:1083-92
22605921
Chin Med J (Engl). 2004 May;117(5):706-10
15161538
PLoS Genet. 2012;8(5):e1002611
22570627
Surv Ophthalmol. 2008 Nov;53 Suppl1:S3-10
19038621
Saudi J Ophthalmol. 2011 Oct;25(4):373-9
23960951
Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4917-25
22714896
Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2595-600
25711633
Hum Mol Genet. 2011 Jun 15;20(12):2464-71
21427129
Sci Rep. 2015 Feb 11;5:8378
25669751
Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2439-48
25758813
Prog Retin Eye Res. 2013 Nov;37:31-67
24055863
Nat Genet. 2010 Oct;42(10):906-9
20835238
Eur J Hum Genet. 2009 Dec;17(12):1650-7
19536175
Mol Vis. 2012;18:1960-5
22876122
PLoS Genet. 2012;8(4):e1002654
22570617
Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63
20018682