Polymorphisms of TCF7L2 gene in South Brazilian women with polycystic ovary syndrome: a cross-sectional study.
OBJECTIVE
To assess whether TCF7L2 single nucleotide polymorphisms rs7903146 C/T and rs11196236 C/T are associated with polycystic ovary syndrome (PCOS) in South Brazilian women.


METHODS
Cross-sectional study.


METHODS
Two hundred PCOS patients and 102 non-hirsute, ovulatory controls were genotyped by real-time PCR. Haplotypes were constructed from the combination of both polymorphisms. Frequencies were inferred using the PHASE 2.1.1 software.


CONCLUSIONS
The distribution of rs7903146 (PCOS, 54.4% CC; 28.5% CT; 17.1% TT; controls, 51.0% CC; 37.0% CT; 12.0% TT) and rs11196236 (PCOS, 4.3% CC; 33.5% CT; 62.2% TT; controls, 3.2% CC; 35.5% CT; 61.3% TT) was similar between the groups. rs7903146 and rs11196236 were not in linkage disequilibrium (|D'|=0.34; r(2)=0.07). PCOS participants were younger, with higher age-adjusted BMI, waist circumference, blood pressure, triglycerides, insulin, homeostasis model assessment index to estimate insulin resistance and total testosterone, and lower HDL-C and sex hormone binding globulin vs controls. In PCOS, no differences between genotypes and haplotypes were found for clinical and metabolic variables. However, for each T (rs7903146) and T (rs11196236) allele added to the haplotypes, a variation of 5.87 cm in waist (P trend=0.01), 10.7 mg/dl in total cholesterol (P trend=0.03), and 10.3 mg/dl in LDL-C (P trend=0.01) was recorded. TCF7L2 variants are probably not implicated in PCOS development in South Brazilian women.
Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003 Porto Alegre, RS, Brazil.
Ramon Bossardi
RB
Ramos
Denusa
D
Wiltgen
Poli Mara
PM
Spritzer
D000328:Adult; D000886:Anthropometry; D044383:Black People; D001786:Blood Glucose / Q000032:analysis / Q000378:metabolism; D001938:Brazil / Q000453:epidemiology; D002784:Cholesterol / Q000097:blood; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D018401:Sample Size; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics*; D014280:Triglycerides / Q000097:blood; D055105:Waist Circumference; D044465:White People
D001786:Blood Glucose; C544894:TCF7L2 protein, human; D058118:Transcription Factor 7-Like 2 Protein; D014280:Triglycerides; D002784:Cholesterol