ABSTRACT
PURPOSE: To assess the possible association of lysyl oxidase-like 1 (LOXL1) gene variants with pseudoexfoliation syndrome (PEX) in Polish population. METHODS: The group studied comprised of 36 patients with PEX (men and women) who presented to Department of Ophthalmology Collegium Medicum UMK in Bydgoszcz, Poland, and 30 control subjects. Blood samples were obtained from each patient via peripheral venipuncture, and genomic DNA was isolated according to the standard procedures. Three LOXL1 single nucleotide polymorphisms (SNPs) rs1048661 (R141L), rs3825942 (G153D) and rs216524 were genotyped in patient sample. RESULTS: The significant association with PEX was found 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. CONCLUSION: Single nucleotide polymorphisms in LOXL1 are associated with PEX in Polish population which confirms the association previously reported for Icelandic, Swedish, Indian and other populations.
Subject(s)
Amino Acid Oxidoreductases/genetics , Exfoliation Syndrome/genetics , Polymorphism, Single Nucleotide , Aged , Female , Gene Frequency , Genotype , Glaucoma/genetics , Humans , Male , Ocular Hypertension/genetics , Poland/ethnology , Polymerase Chain ReactionABSTRACT
In the last few years, one could observe an increased interest in mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) as a result of their numerous applications in population genetics and forensic science. Continuous progress in molecular technologies together with an increasing body of phylogenetic knowledge, based mainly on complete mitochondrial genome sequencing, allows both for selection and accurate typing of many SNPs in mitochondrial DNA. Among the SNP typing techniques, due to its high sensitivity and promptness of determinations, minisequencing appears to be one of the fastest and most frequently applied methods in forensic laboratories. This review presents currently available minisequencing systems used for haplogroup assignment of mtDNA in European, East Asian and Native American populations.
