Association study of TGFβ1-509 C/T and TCRCα-575 A/G polymorphisms with primary ANCA associated vasculitis in family
10.3760/cma.j.issn.1009-9158.2011.02.016
- VernacularTitle:基于家庭的原发ANCA相关性小血管炎与TGFβ1-509C/T及TCRCα-575A/G的相关性
- Author:
Chao XUE
;
Zuojie LUO
;
Yunhua LIAO
;
Xin XIANG
;
Jia XU
;
Li HUANG
;
Mingjun WANG
;
Wei LI
;
Wei FENG
- Publication Type:Journal Article
- Keywords:
Anti-neutrophil cytoplasmic antibody-associated vasculitis;
Transforming growth factor beta 1;
Receptors,antigen,T-cell,alpha-beta;
Polymorphism,single nucleotide;
Genetic predisposition to disease
- From:
Chinese Journal of Laboratory Medicine
2011;34(2):164-169
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the relationship between TGFβ1-509 C/T, TCRCα-575 A/G SNPs and primary AAV using a transmission disequilibrium theory based pedigree analysis Methods Genotypes of 264 individuals from 88 AAV families include patients, their parents, brothers and sisters were determined by PCR-RFLP and direct sequencing. Transmission disequilibrium test(TDT) and HRR were employed for the data analysis to observe the transmission disequilibrium of TGF31-509 C/T and TCRCα -575 A/G polymorphisms. Results No transmission disequilibrium from heterozygous parents onto the patients was found in the trios analyzed by TDT for either TGFβ1-509 C/T (observed C/T = 36/28, expected C/T =33. 5/30. 5, x2 =0.51, P＞0.05) or TCRCo-575 A/G ( observed A/G = 29/39, expected A/G = 33.5/34. 5, x2 = 1. 59, P ＞ 0. 05 ). The genotype-based HRR and haplotype-based HRR showed there was no increased risk of AAV in the observed trios for either -509 C/T polymorphism of TGFβ1 (transmitted genotype CC/CT/TT =12/20/6, allele C/T = 44/32; nontransmitted genotype CC/CT/TT = 10/19/9,allele C/T =39/37, genotype-based HRR x2 =0.81, P ＞0. 05, haplotype-based HRR x2 =0. 66, P＞0. 05,HRR = 1.30) or -575 A/G polymorphism of TCRCα ( transmitted genotype AA/AG/GG = 9/18/12, allel A/G = 36/42; nontransmitted genotype AA/AG/GG = 15/15/9, allel A/G = 35/33, genotype-based HRR x2=2. 20, P ＞0. 05. Haplotype-based HRR x2 =0. 41, P ＞0. 05, HRR =0. 81 ). The deviation of HRR coefficient was not excessive(1.00). Conclusion TGFβ1-509 C/T and TCRCo-575 A/G polymorphism may not be associated with the genetic susceptibility of primary AAV in Guangxi Han population.
