Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome

Karaca, Irmak; Yılmaz, Suzan Güven; Palamar, Melis; Önay, Hüseyin; Akgün, Bilçağ; Aytaçoğlu, Burcu; Aykut, Ayça; Özkınay, Feriştah

doi:10.1007/s10792-017-0800-3

Cited by 3 publications

(1 citation statement)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Language genes are a group of specific genes in charge of unique human language functions. In the past twenty years, some progress has been seen on language gene polymorphisms from different ethnics [7–12] . These polymorphisms are primarily derived from long-term interactions between human and surrounding geographical environments to get adapted.…”

Section: Introductionmentioning

confidence: 99%

Correlation analysis among single nucleotide polymorphisms in thirteen language genes and culture/education parameters from twenty-six countries

Sun

Guo

Zhang

2021

Preprint

View full text Add to dashboard Cite

Language is a vital feature of any human culture, but whether language gene polymorphisms have meaningful correlations with some cultural characteristics during the long-run evolution of human languages largely remains obscure (uninvestigated). This study would be an endeavor example to find evidences for the answer of above question. In this study, the collected basic data include 13 language genes and their randomly selected 111 single nucleotide polymorphisms (SNPs), SNP profiles, 29 culture/education parameters, and estimated cultural context values for 26 representative countries. In order to undertake principal component analysis (PCA) for correlation search, SNP genotypes, cultural context and all other culture/education parameters have to be quantitatively represented into numerical values. Based on the above conditions, this study obtained its preliminary results, the main points of which contain: (1) The 111 SNPs contain several clusters of correlational groups with positive and negative correlations with each other; (2) Low cultural context level significantly influences the correlational patterns among 111 SNPs in the principal component analysis diagram; and (3) Among 29 culture/education parameters, several basic characteristics of a language (the numbers of alphabet, vowel, consonant and dialect) demonstrate least correlations with 111 SNPs of 13 language genes.

show abstract

Section: Introductionmentioning

confidence: 99%

Correlation analysis among single nucleotide polymorphisms in thirteen language genes and culture/education parameters from twenty-six countries

Sun

Guo

Zhang

2021

Preprint

View full text Add to dashboard Cite

show abstract

Current understanding of genetics and epigenetics in pseudoexfoliation syndrome and glaucoma

Kapuganti,

Alone

2023

Molecular Aspects of Medicine

View full text Add to dashboard Cite

Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms

Schlötzer‐Schrehardt

Khor

2020

Current Opinion in Ophthalmology

View full text Add to dashboard Cite

Purpose of review The genetic basis of pseudoexfoliation (PEX) syndrome, the most common identifiable cause of open-angle glaucoma, is steadily being elucidated. This review summarizes the recent advances on genetic risk factors for PEX syndrome/glaucoma and their potential functional implications in PEX pathophysiology. Recent findings As of today, seven loci associated with the risk of PEX surpassing genome-wide significance have been identified by well-powered genome-wide association studies and sequencing efforts. LOXL1 (lysyl oxidase-like 1) represents the major genetic effect locus, although the biological role of common risk variants and their reversed effect in different ethnicities remain an unresolved problem. Rare protein-coding variants at LOXL1 and a single noncoding variant downstream of LOXL1 showed no allele effect reversal and suggested potential roles for elastin homeostasis and vitamin A metabolism in PEX pathogenesis. Other PEX-associated genetic variants provided biological insights into additional disease processes and pathways, including ubiquitin-proteasome function, calcium signaling, and lipid biosynthesis. Gene-environment interactions, epigenetic alterations, and integration of multiomics data have further contributed to our knowledge of the complex etiology underlying PEX syndrome and glaucoma. Summary PEX-associated genes are beginning to reveal relevant biological pathways and processes involved in disease development. To understand the functional consequences and molecular mechanisms of these loci and to translate them into novel therapeutic approaches are the major challenges for the future.

show abstract

Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome

Abstract: rs2107856 SNP of CNTNAP2 gene has no association with PXS and PXG in the evaluated Turkish population.

Cited by 3 publications

References 28 publications

Correlation analysis among single nucleotide polymorphisms in thirteen language genes and culture/education parameters from twenty-six countries

Correlation analysis among single nucleotide polymorphisms in thirteen language genes and culture/education parameters from twenty-six countries

Current understanding of genetics and epigenetics in pseudoexfoliation syndrome and glaucoma

Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms

Contact Info

Product

Resources

About