PDCD1, CTLA-4 and p53 gene polymorphism and susceptibility to gestational trophoblastic diseases.
OBJECTIVE
Gestational trophoblastic neoplasms (also termed gestational trophoblastic diseases [GTDs]) encompass a spectrum of interrelated tumors originating from trophoblasts. The search is ongoing for identification of the culpable gene defects in GTDs. Considering the role of PDCD1, CTLA-4 and p53 genes in immune regulation and tumor progression, we explored the association of single-nucleotide polymorphisms (SNPs) corresponding to each gene and GTDs.


METHODS
In a genetic association study, PD1.5 (7785) C/T, CTLA-4 +49 A/G, and p53 codon 72 Arg/Pro SNPs were genotyped in case-control groups with patient/control ratios of 92:295, 83:84 and 85:150, respectively.


RESULTS
The C/T genotype of the PDCD1 gene was significantly more prevalent among patients with GTDs (40.2%) than controls (19%) (odds ratio [OR] = 2.87; 95% CI = 1.72, 4.77; p < 0.001). Moreover, the C allele was present in 65.8% of patients and 49.5% of controls (OR = 1.96; 95% CI = 1.38, 2.76; p < 0.001). There was no difference in the distribution of each genotype or allele between patients with GTDs and controls considering other studied SNPs.


CONCLUSIONS
The results of the current study demonstrate that SNPs in the PDCD1 gene confer susceptibility to GTDs, while there is no association between CTLA-4 and p53 gene polymorphisms and GTDs in an Iranian population.
Dehaghani
Alamtaj Samsami
AS
Department of Obstetrics and Gynecology, Shiraz University of Medical Sciences, Shiraz, Iran.
Kashef
Mohammad Amin
MA
Ghaemenia
Mehdi
M
Sarraf
Zahra
Z
Khaghanzadeh
Narges
N
Fattahi
Mohammad Javad
MJ
Ghaderi
Abbas
A
D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002822:Choriocarcinoma / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D061026:Programmed Cell Death 1 Receptor; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor; D016159:Tumor Suppressor Protein p53