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

Autor:	Perez-Ortiz AC; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. lunangulo@gmail.com.; Laboratory of Epidemiology and Public Health (LEPH), Yale University School of Public Health, New Haven, CT 06510, USA. lunangulo@gmail.com., Luna-Angulo A; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. lunangulo@gmail.com.; Departamento de Neurociencias, Instituto Nacional De Rehabilitación, Calzada México-Xochimilco 289, Arenal Tepepan, 14389 Ciudad de México, Mexico. lunangulo@gmail.com., Zenteno JC; 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. czenteno@institutodeoftalmologia.org., Rendon A; Institut De La Vision, Sorbonne Universites, F-75012 Paris, France. alvaro.rendon@inserm.fr., Cortes-Ballinas LG; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. lilixar@gmail.com.; Facultad de Química, Universidad Nacional Autónoma de México, Coyoacán, Ciudad Universitaria, 04510 Ciudad de México, Mexico. lilixar@gmail.com., Jimenez-Collado D; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. djimcoll@gmail.com., Antonio-Aguirre B; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. bani.aantonio@gmail.com., Peralta-Ildefonso MJ; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. martha.janneth2830@gmail.com.; Facultad de Química, Universidad Nacional Autónoma de México, Coyoacán, Ciudad Universitaria, 04510 Ciudad de México, Mexico. martha.janneth2830@gmail.com., Ramírez I; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. israel.ramirez04@gmail.com., Jacob-Kuttothara S; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. skuttothara@gmail.com., Estrada-Mena FJ; Laboratorio de Biología Molecular, Escuela de Medicina, Universidad Panamericana, Donatello 59 Insurgentes Mixcoac Benito Juárez 03920 Ciudad de México, Mexico. festrada@up.edu.mx.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2018 Sep 25; Vol. 9 (10). Date of Electronic Publication: 2018 Sep 25.
DOI:	10.3390/genes9100467
Abstrakt:	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. Competing Interests: The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; final the writing of the manuscript; or in the decision to publish the results.
Databáze:	MEDLINE
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