PMID- 26617759
OWN - NLM
STAT- MEDLINE
DCOM- 20160928
LR  - 20221207
IS  - 1936-2625 (Electronic)
IS  - 1936-2625 (Linking)
VI  - 8
IP  - 9
DP  - 2015
TI  - Association of genetic polymorphisms on BTNL2 with susceptibility to and 
      prognosis of dilated cardiomyopathy in a Chinese population.
PG  - 10488-99
AB  - BACKGROUND: Dilated cardiomyopathy (DCM) is one type of primary myocardial 
      disease, partly caused by immunity dysfunctions. BTNL2 (butyrophilin-like 2) has 
      already been confirmed to be involved in the etiology of autoimmune disorders and 
      GWAS (genome wide association study) has also identified mutants of a SNP (single 
      nucleotide polymorphism) near BTNL2 could modulate risk of coronary heart disease 
      (also cardiomyopathy). The current study, therefore, was aimed to investigate 
      whether polymorphisms within or around BTNL2 would be correlated with 
      susceptibility to and prognosis of DCM. MATERIAL AND METHODS: Peripheral blood 
      samples were gathered from 82 DCM patients and 75 healthy controls. Nine tag-SNPs 
      within or near BTNL2 were obtained from HapMap Database and previously published 
      studies. Eligible haplotypes were gained on the basis of SHesis software. 
      Genotyping of SNPs was implemented with aid of Sequenom MassArray iPLEX platform 
      and subsequently analyzed via MALDI-TOF mass spectrometry. The odd ratios and 
      their 95% confidence interval (95% CI) were utilized to evaluate the correlations 
      between SNPs/haplotypes and DCM risks. Finally, Cox proportional hazard models 
      and Kaplan-Meier curves were performed to assess association of SNPs/haplotypes 
      with prognosis of DCM patients. The statistical analyses were conducted with SPSS 
      19.0 software. RESULTS: Under the allelic model, rs3763313 (A > C), rs9268494 (C 
      > A), rs9268492 (C > G) and rs9268402 (A > G) were remarkably associated with 
      susceptibility to grade IV of DCM classified by NYHA (New York heart association) 
      (OR = 0.43, 95% CI: 0.22-0.84; P = 0.018; OR = 0.49, 95% CI: 0.27-0.91; P = 
      0.024; OR = 0.50, 95% CI: 0.27-0.94; P = 0.035; OR = 0.53, 95% CI: 0.28-0.97; P = 
      0.048). Haplotype C-C-A-T (rs9268492, rs9268494, rs3763313 and rs3763317 
      synthesized) was also regarded as a protective factor for DCM patients compared 
      with carriers of other haplotypes (OR = 0.50, 95% CI: 0.26-0.97, P = 0.038). 
      Moreover, the univariate survival analysis and multivariate Cox regression 
      analysis both indicated noticeable correlations between rs9268402 and haplotype 
      C-C-A-T and prognosis of DCM patients (NYHA IV), respectively (Long-Rank P = 
      0.029, HR: 0.241, 95% CI: 0.089-0.650, P = 0.005; Long-Rank P = 0.036; HR = 
      0.126, 95% CI: 0.035-0.457, P = 0.002). Nonetheless, rs3763313 was found only 
      associated with prognosis of DCM patients (NYHA IV) expressed in the Kaplan-Meier 
      curve (P = 0.009). CONCLUSION: The genetic mutations within or around BTNL2 
      (rs3763313, rs9268494, rs9268492 and rs9268402) could alter susceptibility to 
      grade IV of DCM in a Chinese population, and the 2 SNPs (rs3763313 and rs9268402) 
      therein added with haplotype C-C-A-T might separately predict the prognosis of 
      DCM patients. However, additional studies regarding diverse ethnicities need to 
      be furthered to validate our results.
FAU - Cheng, Liang
AU  - Cheng L
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
FAU - Zhao, Rong
AU  - Zhao R
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
FAU - Jin, ZhenXiao
AU  - Jin Z
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
FAU - Ren, Kai
AU  - Ren K
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
FAU - Deng, Chao
AU  - Deng C
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
FAU - Yu, Shiqiang
AU  - Yu S
AD  - Department of Cardiovascular Surgery, Xijing Hospital, The Fourth Military 
      Medical University Xi'an 710032, China.
LA  - eng
PT  - Journal Article
DEP - 20150901
PL  - United States
TA  - Int J Clin Exp Pathol
JT  - International journal of clinical and experimental pathology
JID - 101480565
RN  - 0 (BTNL2 protein, human)
RN  - 0 (Butyrophilins)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Asian People/genetics
MH  - Butyrophilins
MH  - Cardiomyopathy, Dilated/*genetics/mortality
MH  - Echocardiography, Doppler
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Humans
MH  - Kaplan-Meier Estimate
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Prognosis
MH  - Proportional Hazards Models
MH  - Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
PMC - PMC4637574
OTO - NOTNLM
OT  - Dilated cardiomyopathy
OT  - butyrophilin-like 2
OT  - haplotype
OT  - prognosis
OT  - single nucleotide polymorphism
OT  - susceptibility
EDAT- 2015/12/01 06:00
MHDA- 2016/09/30 06:00
PMCR- 2015/09/01
CRDT- 2015/12/01 06:00
PHST- 2015/07/25 00:00 [received]
PHST- 2015/08/28 00:00 [accepted]
PHST- 2015/12/01 06:00 [entrez]
PHST- 2015/12/01 06:00 [pubmed]
PHST- 2016/09/30 06:00 [medline]
PHST- 2015/09/01 00:00 [pmc-release]
PST - epublish
SO  - Int J Clin Exp Pathol. 2015 Sep 1;8(9):10488-99. eCollection 2015.