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Human Vascular Endothelial Growth Factor A165 Expression Induces the Mouse Model of Neovascular Age-Related Macular Degeneration
Open AccessArticle

Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

1
Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico
2
Laboratory of Epidemiology and Public Health (LEPH), Yale University School of Public Health, New Haven, CT 06510, USA
3
Departamento de Neurociencias, Instituto Nacional De Rehabilitación, Calzada México-Xochimilco 289, Arenal Tepepan, 14389 Ciudad de México, Mexico
4
Genetics Department, Research Unit, Institute of Ophthalmology Conde de Valenciana Foundation Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, 06080 Ciudad de México, Mexico
5
Institut De La Vision, Sorbonne Universites, F-75012 Paris, France
6
Facultad de Química, Universidad Nacional Autónoma de México, Coyoacán, Ciudad Universitaria, 04510 Ciudad de México, Mexico
*
Author to whom correspondence should be addressed.
These authors contributed equally.
Genes 2018, 9(10), 467; https://doi.org/10.3390/genes9100467
Received: 7 August 2018 / Revised: 11 September 2018 / Accepted: 19 September 2018 / Published: 25 September 2018
(This article belongs to the Special Issue Eye Genetics and Therapies)
CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes—for instance, in the dystrophin-associated protein complex—might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4–5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06–3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03–3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02–0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities. View Full-Text
Keywords: SGCD; delta-sarcoglycan; candidate-gene approach; AMD SGCD; delta-sarcoglycan; candidate-gene approach; AMD
MDPI and ACS Style

Perez-Ortiz, A.C.; Luna-Angulo, A.; Zenteno, J.C.; Rendon, A.; Cortes-Ballinas, L.G.; Jimenez-Collado, D.; Antonio-Aguirre, B.; Peralta-Ildefonso, M.J.; Ramírez, I.; Jacob-Kuttothara, S.; Estrada-Mena, F.J. Significant Association Between Variant in SGCD and Age-Related Macular Degeneration. Genes 2018, 9, 467.

AMA Style

Perez-Ortiz AC, Luna-Angulo A, Zenteno JC, Rendon A, Cortes-Ballinas LG, Jimenez-Collado D, Antonio-Aguirre B, Peralta-Ildefonso MJ, Ramírez I, Jacob-Kuttothara S, Estrada-Mena FJ. Significant Association Between Variant in SGCD and Age-Related Macular Degeneration. Genes. 2018; 9(10):467.

Chicago/Turabian Style

Perez-Ortiz, Andric C.; Luna-Angulo, Alexandra; Zenteno, Juan C.; Rendon, Alvaro; Cortes-Ballinas, Liliana G.; Jimenez-Collado, David; Antonio-Aguirre, Bani; Peralta-Ildefonso, Martha J.; Ramírez, Israel; Jacob-Kuttothara, Stefany; Estrada-Mena, Francisco J. 2018. "Significant Association Between Variant in SGCD and Age-Related Macular Degeneration" Genes 9, no. 10: 467.

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