title: Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.
abstract: Potentially causative missense variations in the ANG gene and a positive association with the synonymous rs11701-G substitution was detected mainly in Irish and Scottish ALS patients. We screened 262 Italian SOD1 negative ALS patients (250 sporadic) and 415 matched controls for sequence variations in the coding, 3'/5' UTR and 5' flanking (642 bp) regions of the ANG gene. We identified 53 sequence variations of which 46 new, 20 with a minor allele frequency (MAF) >or=0.01 and only three localised in the coding sequence, namely the missense I46V, identified in one patient and two controls, and the synonymous G86G and T97T corresponding to rs11701 and rs2228653. None of the detected SNPs or of their haplotypic combinations was significantly associated with ALS susceptibility or clinical features. In conclusion, we did not detect the association with rs11701-G or with any other newly detected variation in the ANG regulatory region. Furthermore we did not identify potentially causal mutations in the coding region.
authors.affiliation: Laboratory of Human Genetics, Department of Medical Sciences and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Eastern Piedmont University, Novara, Italy. lucia.corrado@med.unipmn.it
authors.forename: Lucia
authors.initials: L
authors.lastname: Corrado
authors.forename: Stefania
authors.initials: S
authors.lastname: Battistini
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Laura
authors.initials: L
authors.lastname: Bergamaschi
authors.forename: Lucia
authors.initials: L
authors.lastname: Testa
authors.forename: Claudia
authors.initials: C
authors.lastname: Ricci
authors.forename: Fabio
authors.initials: F
authors.lastname: Giannini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Greco
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.forename: Simona
authors.initials: S
authors.lastname: Pileggi
authors.forename: Renzo
authors.initials: R
authors.lastname: Causarano
authors.forename: Letizia
authors.initials: L
authors.lastname: Mazzini
authors.forename: Patricia
authors.initials: P
authors.lastname: Momigliano-Richiardi
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011401:Promoter Regions, Genetic / Q000502:physiology*; D012259:Ribonuclease, Pancreatic / Q000235:genetics*
chemical_list: C046366:angiogenin; D012259:Ribonuclease, Pancreatic