RGD Reference Report - The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes. - Rat Genome Database

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The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes.

Authors: Cao, Y  Zhang, Z  Xu, J  Yuan, W  Wang, J  Huang, X  Shen, Y  Du, J 
Citation: Cao Y, etal., Gene. 2013 Nov 10;530(2):248-52. doi: 10.1016/j.gene.2013.07.080. Epub 2013 Aug 14.
RGD ID: 11038683
Pubmed: PMID:23954867   (View Abstract at PubMed)
DOI: DOI:10.1016/j.gene.2013.07.080   (Journal Full-text)

Recurrent pregnancy loss (RPL) is a complex, multifactorial condition. Inherited thrombophilia is the leading cause of thromboembolism and is associated with an increased risk of RPL. The aims of the current study were to investigate the effects of polymorphisms in hemostasis-related genes antithrombin (SERPINC1), thrombomodulin (THBD), tissue factor pathway inhibitor (TFPI), factor V, factor II and annexin A5 (ANXA5), involved in reproductive failure in 94 RPL cases with two or more consecutive pregnancy losses prior to 20weeks of pregnancy and 169 healthy controls who had at least one term delivery and no history of pregnancy loss. The genotypes of SERPINC1 G786A, THBD C1418T, TFPI T-33C, factor V G1628A, factor II A19911G and ANXA5 G76A were assayed by the Sequenom MassARRAY system. Genotype and allele frequencies for SERPINC1 (rs2227589), TFPI (rs8176592), factor V (rs6020), factor II (rs3136516) and ANXA5 (rs113588187) in cases and controls were similar. The distribution of THBD C1418T allele showed significant differences between RPL cases and healthy controls (odds ratio (OR): 1.58, 95%, confidence interval (CI): 1.05-2.39, P=0.027). In univariate logistic regression analyses, carriers of THBD 1418T allele (CT+TT) had an increased risk of RPL (OR: 1.83, 95%, CI: 1.10-3.06, P=0.020). This indicated that THBD 1418T allele was associated with increasing the risk of RPL.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
THBDHumanHabitual Abortions susceptibilityIAGP DNA:SNP: :1418C>T (human)RGD 
ThbdRatHabitual Abortions susceptibilityISOTHBD (Homo sapiens)DNA:SNP: :1418C>T (human)RGD 
ThbdMouseHabitual Abortions susceptibilityISOTHBD (Homo sapiens)DNA:SNP: :1418C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Thbd  (thrombomodulin)

Genes (Mus musculus)
Thbd  (thrombomodulin)

Genes (Homo sapiens)
THBD  (thrombomodulin)


Additional Information