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Association between Psoriasis and haplotypes of the IgH 3' Regulatory Region 1.

Abstract The association studies of several immune-diseases with the 3' Regulatory Region 1 (3'RR1) increased interest on the role that the region plays in the immune-regulation. The 3'RR1 is a polymorphic region on human chromosome 14q32, acting as a cis-regulative element on the Immunoglobulin constant-gene locus recently considered as super-enhancer. The human 3'RR1 share large sequences with its paralogous 3'RR2, at high level of similarity. Thus, a focused investigation was necessary to discriminate each one of the duplicated components of the two regions and its specific contribution to the immunologic phenotype. One of the duplicated elements is the hs1.2 enhancer. The 3'RR1 alleles of this enhancer were demonstrated to play a role in autoimmune diseases, including Psoriasis. We sequenced a specific region internal to the 3'RR1 in hs1.2 homozygous subjects, to detect SNPs associated to the main alleles of the enhancer. We identified two alternative nine-SNPs haplotypes strictly linked to the allele *1 and *2 of hs1.2, that could be used as markers to further investigate the region and associations to pathology. Finally, we identified two haplotypes, namely E2A1 and E2A2, that strongly support the hypothesis of a relevant effect of the rs35216181 in the onset of Psoriasis when the *2 allele is present.
PMID
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Authors

Mayor MeshTerms

3' Flanking Region

Enhancer Elements, Genetic

Genes, Immunoglobulin Heavy Chain

Keywords

3D chromatin

DNA methylation sites

Enhancer hs1.2

Haplotypes

IgH 3'RR-1

Polymorphism

Journal Title gene
Publication Year Start




PMID- 29802990
OWN - NLM
STAT- MEDLINE
DCOM- 20180612
LR  - 20180612
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 669
DP  - 2018 Aug 30
TI  - Association between Psoriasis and haplotypes of the IgH 3' Regulatory Region 1.
PG  - 47-51
LID - S0378-1119(18)30587-0 [pii]
LID - 10.1016/j.gene.2018.05.090 [doi]
AB  - The association studies of several immune-diseases with the 3' Regulatory Region 
      1 (3'RR1) increased interest on the role that the region plays in the
      immune-regulation. The 3'RR1 is a polymorphic region on human chromosome 14q32,
      acting as a cis-regulative element on the Immunoglobulin constant-gene locus
      recently considered as super-enhancer. The human 3'RR1 share large sequences with
      its paralogous 3'RR2, at high level of similarity. Thus, a focused investigation 
      was necessary to discriminate each one of the duplicated components of the two
      regions and its specific contribution to the immunologic phenotype. One of the
      duplicated elements is the hs1.2 enhancer. The 3'RR1 alleles of this enhancer
      were demonstrated to play a role in autoimmune diseases, including Psoriasis. We 
      sequenced a specific region internal to the 3'RR1 in hs1.2 homozygous subjects,
      to detect SNPs associated to the main alleles of the enhancer. We identified two 
      alternative nine-SNPs haplotypes strictly linked to the allele *1 and *2 of
      hs1.2, that could be used as markers to further investigate the region and
      associations to pathology. Finally, we identified two haplotypes, namely E2A1 and
      E2A2, that strongly support the hypothesis of a relevant effect of the rs35216181
      in the onset of Psoriasis when the *2 allele is present.
CI  - Copyright (c) 2018 Elsevier B.V. All rights reserved.
FAU - D'Addabbo, Pietro
AU  - D'Addabbo P
AD  - Department of Biology, University of Bari, Via Amendola 165/A, 70126 Bari, Italy.
      Electronic address: [email protected]
FAU - Serone, Eliseo
AU  - Serone E
AD  - Laboratorio di Proteomica Funzionale, Fondazione Mario Negri Sud, Via Nazionale
      8/A, 66030 Santa Maria Imbaro (Chieti), Italy. Electronic address:
      [email protected]
FAU - Esposito, Maria
AU  - Esposito M
AD  - Dermatology, Fondazione Policlinico Tor Vergata, Viale Oxford 81, 00133 Rome,
      Italy. Electronic address: [email protected]
FAU - Vaccari, Gabriele
AU  - Vaccari G
AD  - Istituto Superiore di Sanita, Dipartimento di Sanita Pubblica Veterinaria e
      Sicurezza Alimentare, Viale Regina Elena 299, 00161 Roma, Italy. Electronic
      address: [email protected]
FAU - Gargioli, Cesare
AU  - Gargioli C
AD  - Department of Biology, University of Tor Vergata, Via della Ricerca Scientifica, 
      00133 Rome, Italy. Electronic address: [email protected]
FAU - Frezza, Domenico
AU  - Frezza D
AD  - Department of Biology, University of Tor Vergata, Via della Ricerca Scientifica, 
      00133 Rome, Italy. Electronic address: [email protected]
FAU - Bianchi, Luca
AU  - Bianchi L
AD  - Dermatology, Department of Systems Medicine, University of Tor Vergata, Via
      Montpellier 1, 00133 Rome, Italy. Electronic address: [email protected]
LA  - eng
PT  - Journal Article
DEP - 20180524
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
SB  - IM
MH  - *3' Flanking Region
MH  - *Enhancer Elements, Genetic
MH  - *Genes, Immunoglobulin Heavy Chain
MH  - Genomics
MH  - Haplotypes
MH  - Humans
MH  - Inverted Repeat Sequences
MH  - Polymorphism, Single Nucleotide
MH  - Psoriasis/*genetics
OTO - NOTNLM
OT  - 3D chromatin
OT  - DNA methylation sites
OT  - Enhancer hs1.2
OT  - Haplotypes
OT  - IgH 3'RR-1
OT  - Polymorphism
EDAT- 2018/05/29 06:00
MHDA- 2018/06/13 06:00
CRDT- 2018/05/27 06:00
PHST- 2018/03/21 00:00 [received]
PHST- 2018/05/21 00:00 [revised]
PHST- 2018/05/22 00:00 [accepted]
PHST- 2018/05/29 06:00 [pubmed]
PHST- 2018/06/13 06:00 [medline]
PHST- 2018/05/27 06:00 [entrez]
AID - S0378-1119(18)30587-0 [pii]
AID - 10.1016/j.gene.2018.05.090 [doi]
PST - ppublish
SO  - Gene. 2018 Aug 30;669:47-51. doi: 10.1016/j.gene.2018.05.090. Epub 2018 May 24.