TY - JOUR T1 - MBL2 polymorphisms in women with atypical squamous cells of undetermined significance. JF - J Med Virol Y1 - 2015 A1 - Zupin, Luisa A1 - Polesello, Vania A1 - Casalicchio, Giorgia A1 - Freato, Nadia A1 - Maestri, Iva A1 - Comar, Manola A1 - Crovella, Sergio A1 - Segat, Ludovica KW - Adolescent KW - Adult KW - Atypical Squamous Cells of the Cervix KW - Female KW - Gene Frequency KW - Genetic Predisposition to Disease KW - Humans KW - Italy KW - Mannose-Binding Lectin KW - Polymorphism, Single Nucleotide KW - Young Adult AB -

Infection with high risk Human papillomavirus (HPV) is the main known cause of cervical cancer. HPV induces different grades of lesions: among them, Atypical squamous cells of undetermined significance are abnormal lesions that could evolve in pre-cancer lesions or spontaneously regress. The mannose binding lectin (MBL) is an innate immunity serum protein also found in cervico-vaginal mucosa, whose expression is known to be affected by polymorphisms in exon 1 and promoter of the MBL2 gene. In the present study the possible association between MBL2 functional polymorphisms and susceptibility to develop atypical squamous cells of undetermined significance was investigated in a group of women from North-East of Italy, stratified for HPV infection status. The MBL2 D and O alleles and the deficient producer combined genotypes, responsible for low MBL production, were more represented among atypical squamous cells of undetermined significance positive women than healthy controls and the results were confirmed when only HPV negative samples were considered. These results suggest a possible involvement of MBL2 functional polymorphisms in atypical squamous cells of undetermined significance susceptibility.

VL - 87 IS - 5 U1 - http://www.ncbi.nlm.nih.gov/pubmed/25693844?dopt=Abstract ER - TY - JOUR T1 - Beta defensin-1 gene polymorphisms and susceptibility to atypical squamous cells of undetermined significance lesions in Italian gynecological patients. JF - J Med Virol Y1 - 2014 A1 - Casalicchio, Giorgia A1 - Freato, Nadia A1 - Maestri, Iva A1 - Comar, Manola A1 - Crovella, Sergio A1 - Segat, Ludovica KW - 5' Untranslated Regions KW - Adolescent KW - Adult KW - Atypical Squamous Cells of the Cervix KW - beta-Defensins KW - Female KW - Genotype KW - Humans KW - Italy KW - Papillomavirus Infections KW - Polymorphism, Single Nucleotide KW - Sequence Analysis, DNA KW - Uterine Cervical Neoplasms KW - Young Adult AB -

The role of the human beta-defensin 1 (hBD-1) in the susceptibility to the onset of the Atypical Squamous Cells of Undetermined Significance (ASCUS) lesion, in the presence or not of HPV infection, is still unknown. In the current study, the three functional single nucleotide polymorphisms (SNPs) -52G > A, -44C > G, and -20G > A at the 5' un-translated region (UTR) of DEFB1 gene, encoding hBD-1, were analyzed in ASCUS lesion gynecological patients and healthy women from the north-east of Italy (Trieste). Cervical samples from 249 European-Caucasian women were collected, screened for HPV and cytologically evaluated; DEFB1 genotyping has been performed by direct sequencing. No significant differences were found for -52G > A, -44C > G, and -20G > A SNPs allele and genotype frequencies between women with and without ASCUS lesions. DEFB1 minor haplotypes were significantly more frequent in ASCUS lesion positive than negative women, associating with an increased risk of this type of lesion. When women were stratified according to HPV infection status, significant differences in the distribution of -52G > A SNP genotype frequencies were found: the presence of the A allele in the homozygous genotype A/A associated with a lower risk of developing ASCUS lesions in HPV negative women. DEFB1 minor haplotypes were also associated with an increased risk of developing ASCUS lesions, being significantly more frequent in HPV negative women with lesions, than without lesions. Although these results highlight the possible involvement of DEFB1, further studies are needed to support the role of DEFB1 in the modulation of the susceptibility to ASCUS lesions.

VL - 86 IS - 12 U1 - http://www.ncbi.nlm.nih.gov/pubmed/24435641?dopt=Abstract ER -