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Single nucleotide polymorphism (SNP) analysis demonstrates a significant association of tumour necrosis factor-alpha (TNFA) with primary immune thrombocytopenia among Caucasian adults

Sarpatwari, Ameet; Bussel, James B; Ahmed, Momin; Erqou, Sebhat; Semple, John W LU ; Newland, Adrian C; Bennett, Dimitri; Pharoah, Paul and Provan, Drew (2011) In Hematology 16(4). p.8-243
Abstract

T-helper 1 polarization in patients with primary immune thrombocytopenia (ITP) is well documented. However, the genetic contribution to this imbalance remains unclear. To address this question, we selected six candidate single nucleotide polymorphisms within cytokine or cytokine receptor genes for association testing among Caucasian adults. Patients from the United Kingdom Adult ITP Registry were gender-matched (1:3) with healthy controls from the Wellcome Trust Case Control Consortium. Variants IL10 -819 c>t, TNFA -308 g>a, TGFB1 -509 c>t, IL1A -889 c>t, IL10 -592 c>t, and IL4R q576r were measured in cases and retrieved for controls from the European Genome-phenome Archive. Associations were evaluated using logistic... (More)

T-helper 1 polarization in patients with primary immune thrombocytopenia (ITP) is well documented. However, the genetic contribution to this imbalance remains unclear. To address this question, we selected six candidate single nucleotide polymorphisms within cytokine or cytokine receptor genes for association testing among Caucasian adults. Patients from the United Kingdom Adult ITP Registry were gender-matched (1:3) with healthy controls from the Wellcome Trust Case Control Consortium. Variants IL10 -819 c>t, TNFA -308 g>a, TGFB1 -509 c>t, IL1A -889 c>t, IL10 -592 c>t, and IL4R q576r were measured in cases and retrieved for controls from the European Genome-phenome Archive. Associations were evaluated using logistic regression models. In total, 206 patients with primary ITP were matched with 618 controls. A significant per allele odds ratio of 1·34 (95% confidence interval, 1·03-1·75; P = 0·03) was observed for TNFA -308 g>a, implicating an increased disease susceptibility among Caucasian carriers of the rare allele.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Adult, Alleles, Case-Control Studies, Cytokines, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Humans, Male, Polymorphism, Single Nucleotide, Receptors, Cytokine, Thrombocytopenia, Tumor Necrosis Factor-alpha, Young Adult, Journal Article, Research Support, Non-U.S. Gov't
in
Hematology
volume
16
issue
4
pages
6 pages
publisher
Informa Healthcare
external identifiers
  • Scopus:79960139310
ISSN
1024-5340
DOI
10.1179/102453311X13025568941808
language
English
LU publication?
no
id
46955dc3-ac5c-4b4f-9af2-dcfcb6bc9513
date added to LUP
2016-09-23 12:04:21
date last changed
2016-10-13 05:14:15
@misc{46955dc3-ac5c-4b4f-9af2-dcfcb6bc9513,
  abstract     = {<p>T-helper 1 polarization in patients with primary immune thrombocytopenia (ITP) is well documented. However, the genetic contribution to this imbalance remains unclear. To address this question, we selected six candidate single nucleotide polymorphisms within cytokine or cytokine receptor genes for association testing among Caucasian adults. Patients from the United Kingdom Adult ITP Registry were gender-matched (1:3) with healthy controls from the Wellcome Trust Case Control Consortium. Variants IL10 -819 c&gt;t, TNFA -308 g&gt;a, TGFB1 -509 c&gt;t, IL1A -889 c&gt;t, IL10 -592 c&gt;t, and IL4R q576r were measured in cases and retrieved for controls from the European Genome-phenome Archive. Associations were evaluated using logistic regression models. In total, 206 patients with primary ITP were matched with 618 controls. A significant per allele odds ratio of 1·34 (95% confidence interval, 1·03-1·75; P = 0·03) was observed for TNFA -308 g&gt;a, implicating an increased disease susceptibility among Caucasian carriers of the rare allele.</p>},
  author       = {Sarpatwari, Ameet and Bussel, James B and Ahmed, Momin and Erqou, Sebhat and Semple, John W and Newland, Adrian C and Bennett, Dimitri and Pharoah, Paul and Provan, Drew},
  issn         = {1024-5340},
  keyword      = {Adult,Alleles,Case-Control Studies,Cytokines,European Continental Ancestry Group,Female,Genetic Predisposition to Disease,Humans,Male,Polymorphism, Single Nucleotide,Receptors, Cytokine,Thrombocytopenia,Tumor Necrosis Factor-alpha,Young Adult,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {4},
  pages        = {8--243},
  publisher    = {ARRAY(0x9a61a08)},
  series       = {Hematology},
  title        = {Single nucleotide polymorphism (SNP) analysis demonstrates a significant association of tumour necrosis factor-alpha (TNFA) with primary immune thrombocytopenia among Caucasian adults},
  url          = {http://dx.doi.org/10.1179/102453311X13025568941808},
  volume       = {16},
  year         = {2011},
}