Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss

Hironori Miyamura, Haruki Nishizawa, Sayuri Ota, Machiko Suzuki, Ayaka Inagaki, Hiromi Egusa, Sachie Nishiyama, Takema Kato, Kanako Pryor-Koishi, Isao Nakanishi, Tomio Fujita, Yuzo Imayoshi, Arseni Markoff, Itaru Yanagihara, Yasuhiro Udagawa, Hiroki Kurahashi

研究成果: Article査読

44 被引用数 (Scopus)


Recent findings have raised the possibility that polymorphisms within the annexin A5 gene (ANXA5) promoter contribute to the etiology of recurrent pregnancy loss (RPL). In our present study, 243 Japanese women who had suffered more than three fetal losses and a group of 119 fertile controls were genotyped for four ANXA5 gene promoter single-nucleotide polymorphisms (SNPs; SNP1-4: g.-467G >A, g.-448A>C, g.-422T>C, g.-373G>A) previously reported to be associated with this disorder. An additional two SNPs located within the 5′-untranslated region of the ANXA5 (SNP5 and 6: g.-302T>G, g.-1C>T) were also evaluated. Our case-control study revealed that the minor allele was significantly more frequent in the RPL group than controls for all six of these SNPs, among which SNP5 showed the highest significance (P = 0.002). As with the M2 haplotype for SNP1-4 (A-C-C-A) for a western population in previous reports, a haplotype comprising all of the minor alleles for SNP1-6 (A-C-C-A-G-T), the third major haplotype in the Japanese population, showed a significantly higher frequency in our current RPL subjects than in controls (P = 0.025). In addition, the second major haplotype (G-A-T-G-G-C) was found to confer a significant risk of RPL (P = 0.036), implicating SNP5 as a major risk determinant for this disease. Our present findings support the hypothesis that genomic variations within the ANXA5 gene upstream region impact upon the disease susceptibility to RPL. Our data indicate that SNP5 is a novel risk factor for this disease in the Japanese population.

ジャーナルMolecular Human Reproduction
出版ステータスPublished - 07-2011

All Science Journal Classification (ASJC) codes

  • 生殖医学
  • 胎生学
  • 分子生物学
  • 遺伝学
  • 産婦人科学
  • 発生生物学
  • 細胞生物学


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