PMID- 20542071
OWN - NLM
STAT- MEDLINE
DCOM- 20110131
LR  - 20111117
IS  - 1879-1166 (Electronic)
IS  - 0198-8859 (Linking)
VI  - 71
IP  - 9
DP  - 2010 Sep
TI  - MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but 
      marks the HLA-DRB1*0102 subgroup carrying susceptibility.
PG  - 861-4
LID - 10.1016/j.humimm.2010.06.007 [doi]
AB  - The etiology of selective IgA deficiency (IgAD) is clearly influenced by human 
      leukocyte antigen (HLA) genetic composition, although the susceptibility observed 
      has not been ascribed to any specific gene/s. A possible role of the MSH5 gene, 
      mapping on this chromosomal region, has been proposed based on its function and 
      on the association of some MSH5 polymorphisms (L85F/P786S and rs3131378) with the 
      disease. However, the extensive linkage disequilibrium in the HLA region makes 
      mandatory additional analyses. We aimed at evaluating the role of those MSH5 
      polymorphisms on IgAD susceptibility considering their linkage with other 
      classically associated HLA markers, specifically DRB1*0102 and B*08-DRB1*03. We 
      studied 146 trios composed by IgAD patient and parents to unambiguously establish 
      the gametic phase. Association of those MSH5 variants with IgAD is observed but 
      stratified analyses considering other HLA alleles rule out the role of MSH5 per 
      se as a predisposing factor. However, the minor allele of one of the studied 
      polymorphisms, 85F, defines the subgroup of DRB1*0102 haplotypes carrying 
      susceptibility. The causal factor present on this haplotype (MSH5 85F-DRB1*0102) 
      seems to be at the telomeric end of HLA class II or in Class I or III, as the 
      allele composition in more centromeric markers is shared by all the haplotypes 
      containing DRB1*0102.
CI  - Copyright 2010 American Society for Histocompatibility and Immunogenetics. 
      Published by Elsevier Inc. All rights reserved.
FAU - Pozo, Nadia Del
AU  - Pozo ND
AD  - Clinical Immunology Department, Hospital Clinico, San Carlos, Madrid, Spain.
FAU - Medrano, Luz Maria
AU  - Medrano LM
FAU - Cenit, M Carmen
AU  - Cenit MC
FAU - Fernandez-Arquero, Miguel
AU  - Fernandez-Arquero M
FAU - Ferreira, Antonio
AU  - Ferreira A
FAU - Garcia-Rodriguez, Mari Cruz
AU  - Garcia-Rodriguez MC
FAU - de la Concha, Emilio G
AU  - de la Concha EG
FAU - Urcelay, Elena
AU  - Urcelay E
FAU - Nunez, Concepcion
AU  - Nunez C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100611
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (HLA-DRB1*01:02 antigen)
RN  - 0 (MSH5 protein, human)
SB  - IM
MH  - Alleles
MH  - Cell Cycle Proteins/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - HLA-B Antigens/genetics
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes/genetics
MH  - Humans
MH  - IgA Deficiency/*genetics
MH  - Linkage Disequilibrium/genetics
MH  - Microsatellite Repeats/genetics
MH  - Parents
MH  - Polymorphism, Genetic/genetics/immunology
EDAT- 2010/06/15 06:00
MHDA- 2011/02/01 06:00
CRDT- 2010/06/15 06:00
PHST- 2010/02/27 00:00 [received]
PHST- 2010/06/01 00:00 [revised]
PHST- 2010/06/04 00:00 [accepted]
PHST- 2010/06/15 06:00 [entrez]
PHST- 2010/06/15 06:00 [pubmed]
PHST- 2011/02/01 06:00 [medline]
AID - S0198-8859(10)00150-3 [pii]
AID - 10.1016/j.humimm.2010.06.007 [doi]
PST - ppublish
SO  - Hum Immunol. 2010 Sep;71(9):861-4. doi: 10.1016/j.humimm.2010.06.007. Epub 2010 
      Jun 11.