Publications (5)13.3 Total impact
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Article: Association between a MYH9 polymorphism (rs3752462) and renal function in the Spanish RENASTUR cohort.
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ABSTRACT: The MYH9 gene encodes a protein that is expressed in the kidney glomerular podocytes. MYH9 single nucleotide polymorphisms (SNPs) have been linked to the risk for chronic kidney disease (CKD) and end stage renal disease. Our aim was to determine whether MYH9 SNPs were associated with renal disease in Spanish Caucasians. The RENASTUR cohort consisted of 592 Spanish Caucasians, aged 55-85years. They were genotyped for SNPs rs3752462 and rs4821480, that tagged haplotype E. The main values between individuals with a glomerular filtration rate (eGFR) <60 and ≥60ml/ min./1.73m2 were statistically compared. The next variables were significantly associated with the eGFR in the univariate analysis: age, gender, type 2 diabetes, total cholesterol, total LDL-cholesterol, and the MYH9 rs3752462 (TC+TT genotypes; p=0.003). This SNP remained significantly associated with the eGFR in the multivariate analysis. In conclusion, SNP rs3752462 was an independent predictor of reduced eGFR in the Spanish RENASTUR population. The genotyping of this MYH9 SNP could help to identify individuals at risk of developing CKD.Gene 03/2013; · 2.34 Impact Factor -
Article: Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
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ABSTRACT: MYH7 mutations are found in ~20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides, resulting in omission of single-exon deletions and mutations in internal intronic, promoter, and 3' UTR regions. We amplified and sequenced large MYH7 fragments in 60 HCM patients without previously identified sarcomere mutations. Lack of aberrant PCR fragments excluded single-exon deletions in the patients. Instead, we identified several new rare intronic variants. An intron 26 single nucleotide insertion (-5 insC) was predicted to affect pre-mRNA splicing, but allele frequencies did not differ between patients and controls (n = 150). We found several rare promoter variants in the patients compared to controls, some of which were in binding sites for transcription factors and could thus affect gene expression. Only one rare 3' UTR variant (c.*29T>C) found in the patients was absent among the controls. This nucleotide change would not affect the binding of known microRNAs. Therefore, MYH7 mutations outside the coding exon sequences would be rarely found among HCM patients. However, changes in the promoter region could be linked to the risk of developing HCM. Further research to define the functional effect of these variants on gene expression is necessary to confirm the role of the MYH7 promoter in cardiac hypertrophy.The Journal of molecular diagnostics: JMD 07/2012; 14(5):518-24. · 3.48 Impact Factor -
Article: Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes.
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ABSTRACT: Recent genomic surveys have identified IL12B as susceptibility locus for psoriasis (Ps). Our aim was to replicate the association between IL12B SNPs and Ps. In addition, we sequenced the IL12B gene in several patients to identify new variants that could explain the disease-risk. A total of 304 Ps-patients and 422 healthy controls (all Caucasian Spanish) were genotyped for three IL12B polymorphisms. SNP rs6887695 (GG genotype) was significantly associated with Ps (p=0.002; OR=1.60, 95% CI=1.19-2.16). This genotype was also more frequent among patients with severe psoriasis (p=0.03). Sequencing of 30 patients with the risk genotype identified several IL12B reported SNPs. Allele and genotype frequencies for two putative functional variants (rs3213120 and rs3213119) did not differ between patients and controls. Our study confirmed rs6887695 as a risk factor for Ps. No other IL12B variants that could explain this association were found in our patients.Cytokine 06/2012; 60(1):27-9. · 3.02 Impact Factor -
Article: Common European mitochondrial haplogroups in the risk for psoriasis and psoriatic arthritis.
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ABSTRACT: Mitochondrial dysfunction could contribute to the pathogenesis of psoriasis (Ps) and Ps-arthritis (PsA). Several common mtDNA polymorphisms/haplogroups have been linked to differences in the production of reactive oxygen species and mitochondrial oxidative damage. To test the hypothesis of an association between mtDNA variants and Ps/PsA, we studied the single-nucleotide polymorphisms that define the common European haplogroups in a total of 325 patients and 300 controls from Spain. No allele/haplogroup was significantly associated with the risk for Ps. However, haplogroup J was significantly less frequent among patients with PsA, suggesting a protective effect in our population (p=0.04; odds ratio=0.39). We concluded that mtDNA may have a role in Ps and PsA.Genetic Testing and Molecular Biomarkers 12/2011; 16(6):621-3. · 1.11 Impact Factor -
Article: Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy.
Neurogenetics 08/2011; 12(4):345-6. · 3.35 Impact Factor
