Endothelial nitric oxide synthase gene variants and haplotypes associated with an increased risk of idiopathic recurrent miscarriage

Autor:	B D Guarino, A.S. Al-Busaidi, Wassim Y. Almawi, Manar A Al-Sulaiti, Ramzi R. Finan, Eddie Racoubian
Rok vydání:	2013
Předmět:	Adult Abortion Habitual medicine.medical_specialty Linkage disequilibrium Outpatient Clinics Hospital Nitric Oxide Synthase Type III Biology Polymorphism Single Nucleotide Gastroenterology Linkage Disequilibrium Polymorphism (computer science) Internal medicine Genotype Recurrent miscarriage medicine Humans Outpatient clinic Genetic Predisposition to Disease Allele Obstetrics and Gynecology Department Hospital Genotyping Alleles Genetic Association Studies Genetics Polymorphism Genetic Haplotype Obstetrics and Gynecology General Medicine medicine.disease Introns Arabs Amino Acid Substitution Reproductive Medicine Tandem Repeat Sequences Case-Control Studies Bahrain Female
Zdroj:	Human Fertility. 16:200-206
ISSN:	1742-8149 1464-7273
DOI:	10.3109/14647273.2013.806824
Popis:	We investigated the association of endothelial nitric oxide synthase (NOS3) polymorphisms rs2070744 (-786T> C), 27-bp repeat 4b/4a, rs1799983 (Glu298Asp), rs3918188 (-734C> A), and rs743507 (113G> A) with idiopathic recurrent miscarriage (IRM). This was a case-control study involving women with confirmed IRM (n = 296), and 305 age- and ethnically matched control women. NOS3 rs2070744, rs1799983, rs3918188, and rs743507 genotyping was done by TaqMan assays; NOS3 4b/4a genotyping was done by PCR-ASA. A higher frequency of -786C and 298Asp alleles was seen in IRM cases, which remained associated independently with IRM on multivariate analysis. Allele and genotype distribution of 4b/4a, rs3918188 (-734C> A) and rs743507 (113A> G) were comparable between IRM cases and control women. Taking homozygous wild-type genotype as a reference, regression analysis confirmed the association of Glu298Asp and -786T/C, and rs743507 homozygous carriers with IRM risk. Marked linkage disequilibrium was seen between tested NOS3 variants, thus allowing the construction of 5-locus [-786T> C/4b4a/Glu298Asp/-734C> A/113G> A] haplotypes. Taking the common T4bGCA haplotype as a reference, multivariate analysis confirmed the positive association of C4bTCG haplotype with IRM, after controlling for traditional covariates. Genetic variation at the NOS3 locus represents a genetic risk factor for increased susceptibility to IRM.
Databáze:	OpenAIRE
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