MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population

Gopalakrishnan, Prakadeeswari; Haripriya, Aravind; Sundaresan, Periasamy

doi:10.1007/s10792-017-0498-2

Cited by 3 publications

(1 citation statement)

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“…This plays an important role in the regulation of cell signaling and homeostasis. MTHFR is localized at chromosome 1 p36.3 of human genome, and to date there are over 40 point mutations or SNPs in the MTHFR gene identified [14, 15]. The polymorphism 1801133 involves substitution of C to T at position 677 (C677T), causing the conversion of alanine to valine.…”

Section: Introductionmentioning

confidence: 99%

The SNP Rs915014 in MTHFR Regulated by MiRNA Associates with Atherosclerosis

Xin-ye

Wang

Chi

et al. 2018

Cell Physiol Biochem

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Background/Aims: The association between the genetic polymorphisms located in either the exon or untranslated region of MTHFR and the risk of human atherosclerosis has been well-documented. This study analyzed MTHFR polymorphisms at the 3’-untranslated region for association with risk and outcome of atherosclerosis in a Chinese Han population. Methods: The hospital based case-control study was conducted with 500 patients and 600 healthy volunteers as control enrolled. The genotyping was conducted by using Taqman probe. The potential interaction was predicted by multiple bioinformatics analysis. The relative expression of MTHFR was detected by qRT-PCR. Further confirmation was determined by dual-luciferase assay. The plasma homocysteine levels were assayed by ELISA. Results: Cigarette smoking, alcohol consumption, diabetes, hypertension and low levels of serum high-density lipoprotein-C were associated with an increased risk of developing ischemic stroke. MTHFR rs915014 AG and GG genotypes were significantly associated with increased risk of rs915014 compared with the GG genotype. The qRT-PCR confirmed that MTHFR rs915014 AG or GG genotypes could facilitate miR-2861 binding leading to decreased MTHFR levels in cells. In addition, patients carrying the MTHFR rs915014 AG or GG genotypes were associated with accumulation of circulating tHcy volume and a poor atherosclerosis consequence. Conclusions: This study demonstrates that the MTHFR rs915014 is associated with increased risk of atherosclerosis and might be a shot term outcome biomarker for atherosclerosis patients.

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Section: Introductionmentioning

confidence: 99%

The SNP Rs915014 in MTHFR Regulated by MiRNA Associates with Atherosclerosis

Xin-ye

Wang

Chi

et al. 2018

Cell Physiol Biochem

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Glaucoma

Yanoff,

Sassani

2025

Ocular Pathology

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Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms

Schlötzer‐Schrehardt

Khor

2020

Current Opinion in Ophthalmology

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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.

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MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population

Abstract: Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.

Cited by 3 publications

References 47 publications

The SNP Rs915014 in MTHFR Regulated by MiRNA Associates with Atherosclerosis

The SNP Rs915014 in MTHFR Regulated by MiRNA Associates with Atherosclerosis

Glaucoma

Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms

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