[A/G polymorphism at position 49 in exon 1 of CTLA-4 gene in Chinese women with unexplained recurrent spontaneous abortion].
OBJECTIVE
To investigate whether A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte antigen-4 (CTLA-4) gene confers the susceptibility to unexplained recurrent spontaneous abortion in Chinese population.


METHODS
One hundred and sixty-eight restrictive Chinese women with unexplained recurrent spontaneous abortion (URSA) and 117 women with normal pregnancy as control were included in this study. Polymerase chain reaction restrictive fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism at position 49 in exon 1 of CTLA-4 gene. The frequency of alleles G/A, genotypes AA/AG/GG and phenotypes A+ (AA + AG)/G+ (GG + AG) of CTLA-4 were compared between URSA patients and controls.


RESULTS
The different distributions of alleles G/A, genotype AA/AG/GG and phenotypes A+/G+ of CTLA-4 were observed between URSA patients and controls. The frequencies of both G allele [68.4% (230/336) vs 59.4% (139/234), P < 0.05] and GG genotype [48.8% (82/168) vs 33.3% (39/117), P < 0.05] were significantly higher in URSA group than that in control group, while the frequencies of AG genotype [39.3% (66/168) vs 52.1% (61/117), P < 0.05] and A+ (AA + AG) phenotype [51.2% (86/168) vs 66.7% (78/117), P < 0.05] were significantly lower in URSA group than that in control group.


CONCLUSIONS
The results suggest that A/G polymorphism in exon-1 of CTLA-4 might confer the susceptibility to RSA in Chinese women.
Wang
Xi-peng
XP
Department of Obstetrics and Gynecology, Affiliated Renji Hospital, Shanghai Jiaotong University, Shanghai 200001, China.
Lin
Qi-de
QD
Ma
Zheng-wen
ZW
Hong
Yan
Y
Zhao
Ai-min
AM
Di
Wen
W
Lu
Pei-hua
PH
D000026:Abortion, Habitual / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D000943:Antigens, Differentiation / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D060908:CTLA-4 Antigen; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human