Analysis of <i>CNTNAP2</i> polymorphisms in Polish population with pseudoexfoliation syndrome

Malukiewicz, Grażyna; Lesiewska-Junk, Hanna; Linkowska, Katarzyna; Grzybowski, Tomasz; Kaźmierczak, Karolina

doi:10.1111/j.1755-3768.2012.02395.x

Cited by 7 publications

(4 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Krumbiegel et al revealed two SNPs, rs 2107856 and rs 2141388, located in intron 11 of the CNTNAP2 gene which were strongly associated with PEX in the German but not the Italian cohort (8). Despite this report, we were unable to show association between the CNTNAP2 SNPs (rs2107856, rs214138) gene and PEX syndrome in Polish patients, as presented in our previous paper (9). These results are in harmony with results for Italian and Japanese cohorts (16).…”

Section: Discussionsupporting

confidence: 84%

“…Genotypes of the LOXL1 SNPs: rs1048661 (R141L), rs3825942 (G153D), rs2165241, CNTNAP2 SNPs: rs2107856, rs214138 and SOD1 SNPs: rs10432782, rs2070424 were determined using a commercially available assays, as described before (4,9,13).…”

Section: Methodsmentioning

confidence: 99%

“…Some studies suggest an association between PEX and two SNPs, rs2107856 and rs2141388, of the CNTNAP2 contactin-associated protein-like 2 gene. This correlation was observed in German patients; however, it was not evident in an Italian cohort (8,9). Interestingly, it was shown that some SNPs of CNTNAP2 and CNTNAP4 genes are associated with aging and age-related disorders such as Alzheimer's and Parkinson's diseases (10,11) There is increasing evidence that oxidative stress is involved in the pathobiology of PEX.…”

Section: Prace Oryginalnementioning

confidence: 98%

See 2 more Smart Citations

Genetic background analysis of pseudoexfoliation syndrome in Polish population – summary overview

Malukiewicz¹,

Lesiewska²,

Stafiej³

et al. 2019

Self Cite

View full text Add to dashboard Cite

Aim: To evaluate Contactin Associated Protein-Like 2 (CNTNAP2), Contactin-Associated Protein-Like 4 (CNTNAP4), Lysyl Oxidase-Like Protein 1 (LOXL1) and superoxide dismutase 1 (SOD1) gene polymorphisms in patients with pseudoexfoliation syndrome (PEX). Material and methods: The study group consisted of 73 cataract patients with PEX and 111 controls with cataract but without PEX. Blood samples were obtained from each participant via peripheral venepuncture and genomic DNA was isolated according to the standard procedures. Genotypes of the CNTNAP4 esv12669 was determined using a commercially available assay. Previously reported chosen gene polymorphisms assessed by us in PEX patients were overviewed. Results: There was no difference in both allele and haplotype frequencies of single-nucleotide polymorphisms (SNPs) in CNT-NAP2 (rs2107856 and rs214138) and in SOD1 (rs10432782 and rs2070424) between PEX patients and controls. There was no difference in in frequencies of copy-number variations (CNVs) alleles esv12669 in the CNTNAP4 and esv11910 in the CNTNAP2 between PEX patients and controls. There were significant associations between PEX and SNPs in LOXL1-for the G allele of rs3825942 (p = 0.0047) and for the T allele of rs216541 (p = 0.021). The haplotype (GGT) consisting of all three risk alleles was significantly overrepresented (87.5%) in patients with PEX. Conclusions: our studies confirm a genetic basis for PEX with the significant association between the assessed LOXL1 SNPs and PEX in Polish population.

show abstract

Section: Discussionsupporting

confidence: 84%

Section: Methodsmentioning

confidence: 99%

Section: Prace Oryginalnementioning

confidence: 98%

See 1 more Smart Citation

Genetic background analysis of pseudoexfoliation syndrome in Polish population – summary overview

Malukiewicz¹,

Lesiewska²,

Stafiej³

et al. 2019

Self Cite

View full text Add to dashboard Cite

show abstract

“…Contactin-associated protein-like 2 CNTNAP2 gene, located on chromosome seven, codes for contactin-associated protein-like 2, a neurexin protein involved in regulating membrane functions [23]. CNTAP2 has been reported to associate with exfoliation syndrome by one group, Krumbiegel et al [24] performed a genome-wide association study using DNA pooling, which identified a link between two SNPs (rs2107856, rs2141388) in the CNTNAP2 gene and their haplotype with exfoliation syndrome and ESG in German patients.…”

Section: Lysyl Oxidase-like Genementioning

confidence: 99%