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Open AccessArticle

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

Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico
Laboratory of Epidemiology and Public Health (LEPH), Yale University School of Public Health, New Haven, CT 06510, USA
Departamento de Neurociencias, Instituto Nacional De Rehabilitación, Calzada México-Xochimilco 289, Arenal Tepepan, 14389 Ciudad de México, Mexico
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
Institut De La Vision, Sorbonne Universites, F-75012 Paris, France
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;
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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