Association of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a Spanish population

Juan-Marcos, Lourdes de; Escudero-Domínguez, Francisco A.; Hernández-Galilea, Emiliano; Cabrillo-Estévez, L.; Cruz-González, Fernando; Cieza-Borrella, Clara; Sánchez-Barba, Mercedes; González-Sarmiento, Rogelio

doi:10.3109/13816810.2014.921316

Cited by 12 publications

(15 citation statements)

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“…These results are generally in good agreement with findings reported in other European XFG populations including those from Iceland, Sweden, Finland, Germany and Italy [ 20 , 47 , 48 ], white North American XFG populations [ 49 – 51 ] and a population from South India [ 32 ]. However, our results are in contrast with the lack of relationship between XFG and the G allele of rs1048661 in other Spanish population [ 35 ]. Furthermore, we also found differences in the association of other LOXL1 SNPs (i.e.…”

Section: Discussioncontrasting

confidence: 99%

“…The Spanish population studied here comprised of approximately 75 and 66 % of XFG and control participants from the Northwestern region of Spain, where the prevalence of XFG is higher than in other regions of Spain, which could reflect a different genetic background of the subjects from these regions. Thus, differences in the geographic origin of the Spanish populations could explain the discrepancies between our results and those reported recently in a different Spanish population [ 35 ]. It is well known that the frequencies of risk alleles and their association with XFG vary not only among different ethnic groups, but also among populations of the same country, as described in studies with differents populations from Greek, China or India (Table 1 ).…”

Section: Discussioncontrasting

confidence: 95%

“…In contrast, the alternative allele G, has been identified as the risk variant in other XFS/XFG populations (Table 1 ). Most recently, a study conducted with a Spanish population showed the lack of association between the SNP rs10488661 and XFS/XFG [ 35 ]. This is in contrast to what it has been found for most caucasian populations (Table 1 ).…”

Section: Introductionmentioning

confidence: 99%

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LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients

et al. 2015

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BackgroundLOXL1 gene is the most important genetic risk factor known so far for pseudoexfoliation glaucoma (XFG). Our purpose was to evaluate the potential association of individual genetic variants of the lysyl oxidase-like 1 (LOXL1) gene and haplotypes with XFG in Spanish patients.MethodsBlood samples were collected from a total of 105 Spanish patients with XFG and 200 healthy controls. The entire LOXL1 gene along with the promoter, coding and non-coding regions including the 5´- and 3´-untranslated regions, were sequenced using next-generation sequencing in 99 XFG patients. SNPs rs16958477 (promoter), rs1048661 (exon 1), rs3825942 (exon 1), rs2165241 (intron 1) and rs3522 (exon 7) in LOXL1 were genotyped by restriction fragment-length polymorphism (RFLP) in all Spanish control participants and in six additional XFG patients, and a case–control association study was performed.Comparisons of the allelic and genotypic frequencies were performed using standard χ2 test with Bonferroni and Pearson corrections. Logistic regression analyses were permormed using Sigmaplot v11. Haplotypes frequencies were performed using HaploView 4.0.ResultsSequencing of the LOXL1 gene in XFG participants identified a total of 212 SNPs, of which 49 exhibited allelic frequencies with significant differences between cases and controls, and 66 were not previously described. The allele frequencies of SNPs rs16958477, rs1048661, rs3825942, rs2165241, were significantly associated with an increased risk for XFG, however the SNP rs3522 was not.The haplotype frequencies of SNPs rs16958477, rs1048661, rs3825942 and rs2165241 and their association with XFG indicated that the CGGT haplotype, containing all four risk alleles, and the AGGT haplotype, which carries the protective allele of rs16958477 and three risk alleles of the other three SNPs, were significantly associated with XFG (p = 4.5×10−6, and p = 8.8×10−6), conferring more than 2-fold increased disease susceptibility.ConclusionsSNPs of the LOXL1 gene are associated with XFG in the Spanish population. This information adds new support to the distinct risk association frequencies of LOXL1 alleles with XFG in Western European and Asian populations. Identification and validation of additional SNPs along the entire LOXL1 gene of XFG cases may provide insightful information on their potential role in the pathogenesis of this disease.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-015-0221-y) contains supplementary material, which is available to authorized users.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussioncontrasting

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients

et al. 2015

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“…Este SNP es el más extensamente analizado en todas las publicaciones presentes en la literatura médica. Nuestros resultados [310] concuerdan con los estudios realizados hasta la fecha en múltiples poblaciones de origen caucásico y asiático de distinta localización [259, (tabla 35). En todos ellos se considera la expresión del alelo G y del genotipo homocigoto GG como factores de riesgo para el desarrollo de la enfermedad pseudoexfoliativa.…”

Section: Estudio Del Gen Loxl1unclassified

“…Por el contrario, en un estudio publicado con posterioridad a nuestros resultados, Álvarez y colaboradores [310] si pudieron objetivar una asociación significativa entre el alelo G y el genotipo GG de este polimorfismo y la enfermedad pseudoexfoliativa en una población española. Aunque una parte importante de los trabajos publicados realizados con individuos de origen caucásico coinciden con esta asociación [259, 311-314, 317, 319-321, 323-326] , la discordancia de resultados con poblaciones de un mismo origen no es única y aparece del mismo modo, por ejemplo, en estudios llevados a cabo con individuos de origen griego o estadounidense [316,322].…”

Section: Estudio Del Gen Loxl1unclassified

Estudio genético del síndrome pseudoexfoliativo

Domínguez¹

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A mis padres, que han convertido la educación de sus hijos en el rumbo que ha marcado sus vidas. A mis hermanos, compañeros en el viaje y en el aprendizaje de la vida. A mi tía Chiqui, que sembró en mí la semilla de la Medicina desde mi infancia y la fue regando cada día con su cariño. A mi tía Tere, que nos dejó con el deseo incumplido de ver finalizado este trabajo y que ya me puede mirar con ojos de satisfacción desde donde se encuentre, con mi emocionado recuerdo.A la pequeña Lucía. AGRADECIMIENTOSEl apartado de agradecimientos en un trabajo de Tesis Doctoral es siempre largo e incompleto, pero muy necesario.

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