Serena Vatta - Academia.edu (original) (raw)

Papers by Serena Vatta

Cellular and Molecular Immunology, 2014

BMC Medical Genetics, 2009

Background: Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (I... more Background: Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases.

Journal of Molecular Medicine, 2005

Celiac disease is a multifactorial disorder caused, in genetically susceptible patients, by the i... more Celiac disease is a multifactorial disorder caused, in genetically susceptible patients, by the ingestion of dietary gluten. Very little is known about the genetic factors, but there is a strong association of two HLA haplotypes (DQ2 or α1*05, β1*02 and DQ8 or α1*0301, β1*0302)

Immunogenetics, 2009

Human leukocyte antigen (HLA) genes, located on chromosome 6p21.3, have a crucial role in suscept... more Human leukocyte antigen (HLA) genes, located on chromosome 6p21.3, have a crucial role in susceptibility to various autoimmune and inflammatory diseases, such as celiac disease and type 1 diabetes. Certain HLA heterodimers, namely DQ2 (encoded by the DQA1*05 and DQB1*02 alleles) and DQ8 (DQA1*03 and DQB1*0302), are necessary for the development of celiac disease. Traditional genotyping of HLA genes is laborious, timeconsuming, and expensive. A novel HLA-genotyping method, using six HLA-tagging single-nucleotide polymorphisms (SNPs) and suitable for high-throughput approaches, was described recently. Our aim was to validate this method in the Finnish, Hungarian, and Italian populations. The six previously reported HLA-tagging SNPs were genotyped in patients with celiac disease and in healthy individuals from Finland, Hungary, and two distinct regions of Italy. The potential of this method was evaluated in analyzing how well the tag SNP results correlate with the HLA genotypes Immunogenetics (

Human Immunology, 2010

The aim of this study was to identify in the Brazilian population the frequency of human leukocyt... more The aim of this study was to identify in the Brazilian population the frequency of human leukocyte antigen (HLA) DQ2.5 and DQ8 haplotypes conferring risk for type 1 diabetes (T1D), and to validate a new genotyping method aimed at cost reduction and automation. A total of 184 children and adolescents with T1D and 184 healthy individuals from Recife (northeastern Brazil) were analyzed using the conventional polymerase chain reaction-sequence-specific primers HLA genotyping and a newly described Tag-single-nucleotide polymorphism real-time polymerase chain reaction. The Tag-single-nucleotide polymorphism-based HLA genotyping method was successfully validated, proved to be robust, with limited cost and thus could be successfully used for the identification of genetic susceptibility for T1D in areas with limited financial resources. Our findings report for the first time the distribution of DQ2.5 and DQ8 HLA risk haplotypes associated with T1D in northeastern Brazil and evidence a major risk for developing T1D when the heterozygous DQ2.5/DQ8 or the homozygous DQ2.5/DQ2.5 haplotypes are present. ᭧

Human Immunology, 2011

We genotyped celiac disease (CD)-associated haplotypes DQ2.5, DQ8, DQ2.2, and DQ7 in 1005 CD pati... more We genotyped celiac disease (CD)-associated haplotypes DQ2.5, DQ8, DQ2.2, and DQ7 in 1005 CD patients from North Eastern Italy using a Tag-single nucleotide polymorphism (SNPs) approach and real time PCR platform, checking the accuracy and reliability of the method and comparing it to traditional PCR-SSP. Only 14 of 2010 chromosomes analyzed (0.7%) showed discrepancies between the Tag-SNPs real-time polymerase chain reaction (PCR) method and the PCR-single-strand polymorphism (SSP) technique, indicating a high sensitivity and specificity (ranging from 0.987 to 1 and from 0.998 to 0.999, respectively) for tagging with respect to corresponding human leukocyte antigen (HLA) alleles identified by PCR-SSP. Moreover, the overall cost of the Tag-SNPs HLA typing method was low (3 to 4 /sample instead of 35 to 70 /sample with commercial kits), making it suitable for mass screenings. Hence, we believe that the Tag-SNPs HLA typing could be used to complement or replace classic HLA typing in at high-risk groups, for research purposes and eventually in population screening programs. ᭧

European Journal of Human Genetics, 2001

Hereditary haemochromatosis is an inherited disorder characterised by an excessive iron absorptio... more Hereditary haemochromatosis is an inherited disorder characterised by an excessive iron absorption from the diet and is associated with several HFE gene mutations. One hypothesis is that these genetic mutations originated in the Celtic populations. The aim of this study is to determine the frequency of HFE gene mutations in a clustered Italian population of Celtic ancestry (Cimbri, Asiago plateau). One hundred and forty-nine consecutive unrelated blood donors (31 females and 118 males) were enrolled in this study. A family investigation was performed in each case to identify the ethnic origin of the individuals. The analysis of HFE gene mutations was performed by PCR amplification followed by digestion with RsaI and DpnII restriction enzymes. At least one HFE gene mutation was identified in 49 individuals (32.9%) of the studied population. The allele frequencies of the C282Y and H63D were respectively 0.037 and 0.144. When we considered only the 103 individuals with relatives born in Asiago, the prevalence of the HFE mutations rose from 32.9 to 39.8%; the allele frequencies of the C282Y and H63D were respectively 0.048 and 0.174. The mean serum iron and ferritin levels were significantly higher in individuals with the HFE mutations than in normal cases. This study indicates that the prevalence of the HFE gene mutations is surprisingly high in Italians with Celtic ancestry. This could suggest the need to perform large mass studies in selected areas of the country to detect the affected patients and prevent the disease in homozygous individuals. European Journal of Human Genetics (2001) 9, 445 ± 451.

Clinical Genetics, 2008

... Fragile X syndrome, mental retardation and macroorchidism. Serena Vatta,; Ileana Cigui,; Elia... more ... Fragile X syndrome, mental retardation and macroorchidism. Serena Vatta,; Ileana Cigui,; Eliana Demori,; Marcello Morgutti,; Vanna Pecile,; Daniela Gambel Benussi,; Cristina Serra,; Antonio Amoroso. Article first published online: 28 JUN 2008. ...

The Journal of pediatrics, 2015

Anti-transglutaminase antibodies are the diagnostic marker of celiac disease, and are considered ... more Anti-transglutaminase antibodies are the diagnostic marker of celiac disease, and are considered to be synthesized only by intestinal B-lymphocytes. During an infectious disease, these antibodies are transiently detected in serum. We show that these infection-triggered antibodies may not originate in the intestinal mucosa and are not an indication of celiac disease.