Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study

BMC Medical Genetics

Research Article

Frida Hosseini¹  Lottie Skjöldebrand-Sparre¹  Britth-Marie Landgren²  Katarina Bremme³  Helena Åkerud⁴  Inger Sundström-Poromaa⁴  Anneli Stavreus-Evers⁴  Anna-Karin Wikström⁴  Michaela Granfors⁴  Helena Karypidis⁵ 

[1] Department of Clinical Sciences, Division of Obstetrics and Gynaecology, Karolinska Institutet and Danderyd Hospital, Stockholm, Sweden;Department of Clinical Sciences, Intervention and Technology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden;Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden;Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden;Department of Clinical Sciences, Division of Obstetrics and Gynaecology, Karolinska Institutet and Danderyd Hospital, Stockholm, Sweden;

关键词: Phosphodiesterase 8B;    Recurrent miscarriage;    Single nucleotide polymorphism;    Thyroid;   

DOI  :  10.1186/1471-2350-13-121

 received in 2012-04-19, accepted in 2012-12-10,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundRecurrent miscarriage affects approximately 1% of all couples. There is a known relation between hypothyroidism and recurrent miscarriage. Phosphodiesterase 8B (PDE8B) is a regulator of cyclic adenosine monophosphate (cAMP) with important influence on human thyroid metabolism. Single nucleotide polymorphism (SNP) rs 4704397 in the PDE8B gene has been shown to be associated with variations in serum Thyroid Stimulating Hormone (TSH) and thyroxine (T4) levels. The aim of this study was to investigate whether there is an association between the SNP rs 4704397 in the PDE8B gene and recurrent miscarriage.MethodsThe study was designed as a retrospective case control study. 188 cases with recurrent miscarriage were included and compared with 391 controls who had delivered at least once and with no history of miscarriage or assisted reproduction.ResultsNo difference between cases and controls concerning age was found. Bivariate associations between homozygous A/A (OR 1.57, 95% CI 0.98-2.52) as well as G/G carriers (OR 1.52, 95% CI 1.02-2.25) of SNP rs 4704397 in PDE8B and recurrent miscarriage were verified (test for trend across all 3 genotypes, p = 0.059). After adjustment for known confounders such as age, BMI and smoking the association between homozygous A/A (AOR 1.63, 95% CI 1.01 - 2.64, p = 0.045) and G/G (AOR 1.52, 95% CI 1.02 - 2.27, p = 0.039) carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage remained.ConclusionsOur findings suggest that there is an association between homozygous A/A as well as homozygous G/G carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage.

【 授权许可】

CC BY   
© Granfors et al.; licensee BioMed Central Ltd. 2012