Genetic polymorphisms of human β-defensins in patients with multiple sclerosis

Research output: Article

1 Citation (Scopus)

Abstract

Aims: Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is alsó supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS. Methods: DEFB1 polymorphisms: C.-20G >A (rsl 1362), DEFB1 C.-44C > G (rsl 800972), DEFB1 c.-52G>A (rsl 799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human β-defensin 2 peptide (hBD2) in the plasma of controis and patients was determined by ELISA. Results: The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controis. A higher frequency of a lower (0.0001). Our results suggest that β-defensins play role in the development of MS.

Original languageEnglish
Pages (from-to)127-133
Number of pages7
JournalIdeggyógyászati szemle
Volume68
Issue number3-4
Publication statusPublished - márc. 30 2015

Fingerprint

Defensins
Genetic Polymorphisms
Multiple Sclerosis
Gene Dosage
DNA Copy Number Variations
Peptides
Microbiota
Blood Donors
Single Nucleotide Polymorphism
Enzyme-Linked Immunosorbent Assay
Genotype
Genes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Medicine(all)

Cite this

@article{41d3df736ad74c8ab0042bfc658d40d8,
title = "Genetic polymorphisms of human β-defensins in patients with multiple sclerosis",
abstract = "Aims: Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is als{\'o} supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS. Methods: DEFB1 polymorphisms: C.-20G >A (rsl 1362), DEFB1 C.-44C > G (rsl 800972), DEFB1 c.-52G>A (rsl 799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human β-defensin 2 peptide (hBD2) in the plasma of controis and patients was determined by ELISA. Results: The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controis. A higher frequency of a lower (0.0001). Our results suggest that β-defensins play role in the development of MS.",
keywords = "Copy number, Human β-defensin, Multiple sclerosis, Polymorphism",
author = "M. Szekeres and F. Somogyv{\'a}ri and K. Bencsik and Z. Szolnoki and L. V{\'e}csei and Y. M{\'a}ndi",
year = "2015",
month = "3",
day = "30",
language = "English",
volume = "68",
pages = "127--133",
journal = "Ideggyogyaszati Szemle",
issn = "0019-1442",
publisher = "Ifjusagi Lap-es Konyvkiado Vallalat",
number = "3-4",

}

TY - JOUR

T1 - Genetic polymorphisms of human β-defensins in patients with multiple sclerosis

AU - Szekeres, M.

AU - Somogyvári, F.

AU - Bencsik, K.

AU - Szolnoki, Z.

AU - Vécsei, L.

AU - Mándi, Y.

PY - 2015/3/30

Y1 - 2015/3/30

N2 - Aims: Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is alsó supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS. Methods: DEFB1 polymorphisms: C.-20G >A (rsl 1362), DEFB1 C.-44C > G (rsl 800972), DEFB1 c.-52G>A (rsl 799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human β-defensin 2 peptide (hBD2) in the plasma of controis and patients was determined by ELISA. Results: The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controis. A higher frequency of a lower (0.0001). Our results suggest that β-defensins play role in the development of MS.

AB - Aims: Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is alsó supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS. Methods: DEFB1 polymorphisms: C.-20G >A (rsl 1362), DEFB1 C.-44C > G (rsl 800972), DEFB1 c.-52G>A (rsl 799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human β-defensin 2 peptide (hBD2) in the plasma of controis and patients was determined by ELISA. Results: The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controis. A higher frequency of a lower (0.0001). Our results suggest that β-defensins play role in the development of MS.

KW - Copy number

KW - Human β-defensin

KW - Multiple sclerosis

KW - Polymorphism

UR - http://www.scopus.com/inward/record.url?scp=84928547345&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84928547345&partnerID=8YFLogxK

M3 - Article

C2 - 26434201

AN - SCOPUS:84928547345

VL - 68

SP - 127

EP - 133

JO - Ideggyogyaszati Szemle

JF - Ideggyogyaszati Szemle

SN - 0019-1442

IS - 3-4

ER -