PMID- 19167444
OWN - NLM
STAT- MEDLINE
DCOM- 20091112
LR  - 20161125
IS  - 1879-1166 (Electronic)
IS  - 0198-8859 (Linking)
VI  - 70
IP  - 3
DP  - 2009 Mar
TI  - Family-based transmission analysis of HLA genetic markers in Sardinian children 
      with autistic spectrum disorders.
PG  - 184-90
LID - 10.1016/j.humimm.2008.12.009 [doi]
AB  - Analyses of a 6-Mb region spanning the human leukocyte antigen (HLA) region from 
      the HLA-DR to the HFE gene were performed in 37 families of Sardinian ancestry, 
      all of whom had at least one autistic child, to identify genetic markers 
      associated with autism spectrum disorders (ASD) development. In particular, four 
      microsatellites (MIB, D6S265, MOGc, and D6S2239) and three single-nucleotide 
      polymorphisms (SNPs; two in positions -308 and -238 in the promoter of the 
      TNF-alpha and SNP rs2857766 [V142L] in exon 3 of the MOG gene) were analyzed. An 
      intrafamilial case-control method (affected family-based controls) and 
      transmission disequilibrium test analysis were used to evaluate the association 
      of microsatellite and SNP markers with ASD-affected children. Results indicated 
      positive associations with ASD for D6S265*220 (p < 0.01) and MOGc*131 (p < 0.05) 
      and negative associations for MOGc*117 and MIB*346 alleles (p < 0.01) in ASD 
      children. Polymorphism haplotype analysis indicated that D6S265 allele *220 and 
      MOGc allele *131 were significantly more likely to be transmitted together, as a 
      whole haplotype, to ASD children (p < 0.05). Conversely, the 
      D6S265*224-MOGc*117-rs2857766(G) haplotype was significantly less frequently 
      transmitted to ASD children (p < 0.01). The results present novel gene markers, 
      reinforcing the hypothesis that genetic factors play a pivotal role in the 
      pathogenesis of ASD.
FAU - Guerini, Franca R
AU  - Guerini FR
AD  - Laboratory of Molecular Medicine and Biotechnology, Don C. Gnocchi Foundation 
      IRCCS, S. Maria Nascente, Milan, Italy. fguerini@dongnocchi.it
FAU - Bolognesi, Elisabetta
AU  - Bolognesi E
FAU - Manca, Salvatorica
AU  - Manca S
FAU - Sotgiu, Stefano
AU  - Sotgiu S
FAU - Zanzottera, Milena
AU  - Zanzottera M
FAU - Agliardi, Cristina
AU  - Agliardi C
FAU - Usai, Sonia
AU  - Usai S
FAU - Clerici, Mario
AU  - Clerici M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090122
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (Genetic Markers)
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (MOG protein, human)
RN  - 0 (Membrane Proteins)
RN  - 0 (Myelin Proteins)
RN  - 0 (Myelin-Associated Glycoprotein)
RN  - 0 (Myelin-Oligodendrocyte Glycoprotein)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - EC 2.3.2.27 (MIB1 ligase, human)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
SB  - IM
MH  - Autistic Disorder/*genetics/*immunology/physiopathology
MH  - Child
MH  - Child, Preschool
MH  - Family
MH  - Female
MH  - Genetic Markers/*immunology
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA Antigens/*genetics/immunology
MH  - Hemochromatosis Protein
MH  - Histocompatibility Antigens Class I/genetics
MH  - Histocompatibility Testing
MH  - Humans
MH  - Italy
MH  - Linkage Disequilibrium
MH  - Male
MH  - Membrane Proteins/genetics
MH  - Microsatellite Repeats
MH  - Myelin Proteins
MH  - Myelin-Associated Glycoprotein/genetics/immunology
MH  - Myelin-Oligodendrocyte Glycoprotein
MH  - *Pedigree
MH  - Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Tumor Necrosis Factor-alpha/genetics
MH  - Ubiquitin-Protein Ligases/genetics
EDAT- 2009/01/27 09:00
MHDA- 2009/11/13 06:00
CRDT- 2009/01/27 09:00
PHST- 2008/10/03 00:00 [received]
PHST- 2008/12/19 00:00 [revised]
PHST- 2008/12/23 00:00 [accepted]
PHST- 2009/01/27 09:00 [entrez]
PHST- 2009/01/27 09:00 [pubmed]
PHST- 2009/11/13 06:00 [medline]
AID - S0198-8859(09)00004-4 [pii]
AID - 10.1016/j.humimm.2008.12.009 [doi]
PST - ppublish
SO  - Hum Immunol. 2009 Mar;70(3):184-90. doi: 10.1016/j.humimm.2008.12.009. Epub 2009 
      Jan 22.