PMID- 23151485
OWN - NLM
STAT- MEDLINE
DCOM- 20130627
LR  - 20221207
IS  - 1476-5470 (Electronic)
IS  - 1466-4879 (Print)
IS  - 1466-4879 (Linking)
VI  - 14
IP  - 1
DP  - 2013 Jan
TI  - Association of ANXA11 genetic variation with sarcoidosis in African Americans and 
      European Americans.
PG  - 13-8
LID - 10.1038/gene.2012.48 [doi]
AB  - A recent genome-wide association study in a German population and two subsequent 
      studies in European populations found that a non-synonymous single-nucleotide 
      polymorphism (SNP), rs1049550, within the annexin A11 (ANXA11) gene was 
      associated with susceptibility to sarcoidosis. We sought to identify additional 
      ANXA11 variants independently associated with sarcoidosis, determine whether any 
      sarcoidosis-associated ANXA11 variants were associated with chest radiographic 
      phenotypes, and explore human leukocyte antigen (HLA) SNP-SNP interactions with 
      ANXA11. A total of 209 SNPs spanning 100 kb including the 5' promoter, coding, 
      and 3' untranslated regions of ANXA11 were genotyped for 1689 sarcoidosis cases 
      and 1252 controls. After adjustment for rs1049550, two additional novel ANXA11 
      sarcoidosis associations were identified only in African Americans--rs61860052 
      (odds ratio (OR)=0.62; 95% confidence interval (CI)=0.40-0.97) and rs4377299 
      (OR=1.31; 95% CI=1.06-1.63). These associations were more pronounced in 
      radiologically-classified Scadding stage IV sarcoidosis cases. We also identified 
      a significant SNP-SNP interaction between rs1049550 and a sarcoidosis risk SNP 
      (rs9268839) near the HLA-DRA locus. This further genetic dissection of ANXA11 may 
      provide additional insight into the immune dysregulation characteristic of 
      sarcoidosis pathophysiology.
FAU - Levin, A M
AU  - Levin AM
AD  - Department of Public Health Sciences, Henry Ford Hospital, Detroit, MI 48202, 
      USA.
FAU - Iannuzzi, M C
AU  - Iannuzzi MC
FAU - Montgomery, C G
AU  - Montgomery CG
FAU - Trudeau, S
AU  - Trudeau S
FAU - Datta, I
AU  - Datta I
FAU - McKeigue, P
AU  - McKeigue P
FAU - Fischer, A
AU  - Fischer A
FAU - Nebel, A
AU  - Nebel A
FAU - Rybicki, B A
AU  - Rybicki BA
LA  - eng
GR  - R56 AI072727/AI/NIAID NIH HHS/United States
GR  - R01 HL092576/HL/NHLBI NIH HHS/United States
GR  - RC2 HL101499/HL/NHLBI NIH HHS/United States
GR  - R01-HL092576/HL/NHLBI NIH HHS/United States
GR  - R56-AI072727/AI/NIAID NIH HHS/United States
GR  - 1RC2HL101499/HL/NHLBI NIH HHS/United States
GR  - R01 ES011126/ES/NIEHS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20121115
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (Annexins)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Black or African American/*genetics
MH  - Annexins/genetics/*metabolism
MH  - Case-Control Studies
MH  - Genetic Association Studies
MH  - Genome, Human
MH  - HLA Antigens/genetics
MH  - Humans
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Sarcoidosis/ethnology/*genetics
MH  - White People/*genetics
PMC - PMC3595044
MID - NIHMS447841
COIS- CONFLICT OF INTEREST The authors declare no conflict of interest.
EDAT- 2012/11/16 06:00
MHDA- 2013/06/29 06:00
PMCR- 2014/01/01
CRDT- 2012/11/16 06:00
PHST- 2012/11/16 06:00 [entrez]
PHST- 2012/11/16 06:00 [pubmed]
PHST- 2013/06/29 06:00 [medline]
PHST- 2014/01/01 00:00 [pmc-release]
AID - gene201248 [pii]
AID - 10.1038/gene.2012.48 [doi]
PST - ppublish
SO  - Genes Immun. 2013 Jan;14(1):13-8. doi: 10.1038/gene.2012.48. Epub 2012 Nov 15.