[The analysis on single nucleotide polymorphism of PDCD1 and systemic lupus erythematous susceptibility among Han indigenous in Chinese population].
OBJECTIVE
To explore the frequencies and polymorphic distribution of intron 4 of programmed cell death 1 (PDCD1) gene, and to analyze its relation to the susceptibility of developing systemic lupus erythematosus (SLE) in indigenous Han Chinese from Anhui province.


METHODS
Blood samples from 122 patients with confirmed SLE and 143 controls were collected for a case-control study. DNA of the subjects was extracted and amplified by polymerase chain reaction (PCR). The single nucleotide polymorphisms(SNPs) of PDCD1 7809 locus,7872 locus and 8162 locus were further confirmed by direct DNA sequencing and BLAST.


RESULTS
The PDCD1 7809 locus was indentified as type G/G among all the subjects investigated. There were significant difference at PDCD1 7872 locus with C/T polymorphism and 8162 locus with G/A polymorphism between SLE patients and controls (Chi2 = 8.55, chi2 = 11.85, P<0.05). The frequencies of genotype for 7872 locus with types of C/C, C/T and T/T in SLE patients were 36.1% 41.8% and 22.1%, while in control they were 51.7%, 35.0% and 13.3%, respectively. There was significant difference in the frequency of mutation in 7872 locus between SLE patients and controls (chi2 = 7.411, P<0.05). The genotype frequencies of PDCD1 8162 locus G/G, G/A and A/A in SLE patients were 50.1%, 20.3% and 28.6%, while in control they were 57.6%, 20.8% and 22.6%, respectively. There was significant difference in the frequency of mutation in 8162 locus alleles between SLE patients and controls (chi2 =7.547, P<0.05). The genetypeof PDCD1-7809(C/T) and PDCD1-8162(G/A) seemed to have the function of preventing the development of SLE ( OR = 0.583, OR = 0.485).


CONCLUSIONS
The genotype of PDCD1 gene 7809 locus was G/G in all indigenous Han Chinese, while the SNPs of PDCD1 gene 7872 locus and 8162 locus might affect the susceptibility to SLE development.
Ye
Dong-qing
DQ
Department of Epidemiology & Biostatistics, School of Public Health, Anhui Medical University, Hefei 230032, China.
Yin
Jing
J
Li
Xiang-pei
XP
Zhang
Guo-qing
GQ
Zhang
Yong-qing
YQ
Wang
Qian
Q
Liu
Hui-hui
HH
D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor
D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor