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Several neurochemical, neuropathological, and experimental data suggest a possible role of oxidative stress in the ethiopathogenesis of multiple sclerosis(MS). Heme-oxygenases(HMOX) are an important defensive mechanism against oxidative stress, and HMOX1 is overexpressed in the brain and spinal cord of MS patients and in experimental autoimmune encephalomyelitis(EAE). We analyzed whether common polymorphisms affecting the HMOX1 and HMOX2 genes are related with the risk to develop MS. We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations(CNVs) of these genes in 292 subjects MS and 533 healthy controls, using TaqMan assays. The frequencies of HMOX2 rs1051308AA genotype and HMOX2 rs1051308A and HMOX1 rs2071746A alleles were higher in MS patients than in controls, although only that of the SNP HMOX2 rs1051308 in men remained as significant after correction for multiple comparisons. None of the studied polymorphisms was related to the age at disease onset or with the MS phenotype. The present study suggests a weak association between HMOX2 rs1051308 polymorphism and the risk to develop MS in Spanish Caucasian men and a trend towards association between the HMOX1 rs2071746A and MS risk.
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http://dx.doi.org/10.1038/srep20830 | DOI Listing |
Endocr Connect
March 2024
Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Oxidative stress and metabolic disorders are involved in the pathogenesis of polycystic ovary syndrome (PCOS). Heme oxygenase 2 (HMOX2) plays a critical role in preserving heme metabolism as well as in modulating glycolipid metabolism, oxidative stress, and inflammation. This study examined the correlation between HMOX2 G554A (rs1051308) and A-42G (rs2270363) genetic variants with the risk of PCOS and assessed the effects of these genotypes on clinical, hormonal, metabolic, and oxidative stress indices using a case-control design that included 1014 patients with PCOS and 806 control participants.
View Article and Find Full Text PDFEur J Clin Invest
May 2017
Department of Medicine-Neurology, Hospital 'Príncipe de Asturias', Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.
Background: Several reports found a relationship between increased serum lead levels and the risk for essential tremor (ET), especially in carriers of the minor allele of the single nucleotide polymorphism (SNP) rs1800435 in the aminolevulinate dehydratase (ALAD) gene, which is involved in the synthesis of haem groups. Our group reported decreased risk for ET in carriers of the minor alleles of the rs2071746 and rs1051308 SNPs in the haem-oxygenases 1 and 2 (HMOX1 and HMOX2), respectively, involved in haem metabolism. We analysed whether ALAD rs1800435 alone and their interactions with the four common SNPs in the HMOX1 and HMOX2 genes are associated with the risk for ET.
View Article and Find Full Text PDFNeurosci Lett
March 2017
Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province, 610041, PR China. Electronic address:
Studies have reported conflicting results about possible associations between variants in heme oxygenase (HMOX) genes and risk of Parkinson's disease (PD) in Caucasians, and little is known about these associations in Asians. We genotyped the single-nucleotide polymorphisms (SNPs) rs2071746 and rs2071747 in HMOX1 and rs1051308 in HMOX2 in 583 Han Chinese with PD and 627 healthy controls using a customized 2×48-Plex SNP Scan™ kit. Frequencies of genotypes and minor alleles were similar between patients and controls for rs2071746 and rs2071747, but different for rs1051308(P=0.
View Article and Find Full Text PDFSci Rep
February 2016
Department of Medicine-Neurology, Hospital "Príncipe de Asturias". Universidad de Alcalá, Alcalá de Henares (Madrid), SPAIN.
Several neurochemical, neuropathological, and experimental data suggest a possible role of oxidative stress in the ethiopathogenesis of multiple sclerosis(MS). Heme-oxygenases(HMOX) are an important defensive mechanism against oxidative stress, and HMOX1 is overexpressed in the brain and spinal cord of MS patients and in experimental autoimmune encephalomyelitis(EAE). We analyzed whether common polymorphisms affecting the HMOX1 and HMOX2 genes are related with the risk to develop MS.
View Article and Find Full Text PDFMedicine (Baltimore)
August 2015
From the Department of Pharmacology, Universidad de Extremadura, Cáceres, Spain (EG-M, JAGA); Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey (Madrid), Spain (FJJ-J, HA-N, FN, MC, JFPN, BP-D-LF, MA-S); Department of Medicine-Neurology, Hospital "Príncipe de Asturias". Uni
Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS.
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