Polymorphisms of transcription factor-7-like 2 (TCF7L2) gene in Tunisian women with polycystic ovary syndrome (PCOS).
BACKGROUND AND AIMS
Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women in their child-bearing age, and is often associated with insulin resistance and type 2 diabetes (T2DM). Given the overlap between PCOS and T2DM, we investigated the association of transcription factor-7-like 2 (TCF7L2) variants rs4506565, rs7903146, rs12243326, and rs12255372 with the susceptibility to PCOS.


SUBJECTS AND METHODS
Study subjects comprised 119 Tunisian women with PCOS (mean age 29.8±4.7years), and 150 control women (mean age 30.6±5.9years). TCF7L2 genotyping was done by the allelic discrimination/real-time PCR method.


RESULTS
Minor allele frequencies (MAFs) of rs4506565 (P=0.61), rs7903146 (P=0.68), rs12243326 (P=0.56), and rs12255372 (P=0.60) were comparable between PCOS cases and control subjects. As the four tested TCF7L2 variants were in linkage disequilibrium, 4-locus (rs4506565, rs7903146, rs12243326, rs12255372) haplotype analysis demonstrated that haplotype 2111 was initially negatively associated with PCOS [P=0.035; OR (95% CI)=0.13 (0.02-0.85)], which was later lost upon correcting for multiple comparisons [Pc=0.248].


CONCLUSION
Our data suggest that there is weak or no contribution of TCF7L2 gene polymorphism to PCOS in Tunisian women. Further studies with larger samples are necessary to confirm this observation.
['Ben-Salem|A|A|', 'Ajina|M|M|', 'Suissi|M|M|', 'Daher|H S|HS|', 'Almawi|W Y|WY|', 'Mahjoub|T|T|']
D000328:Adult D016022:Case-Control Studies D005260:Female D005787:Gene Frequency D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D006239:Haplotypes D006801:Humans D015810:Linkage Disequilibrium D011085:Polycystic Ovary Syndrome D020641:Polymorphism, Single Nucleotide D058118:Transcription Factor 7-Like 2 Protein D014416:Tunisia D055815:Young Adult
transcription factor-7-like 2 TCF7L2 polycystic ovary syndrome PCOS Insulin resistance type 2 diabetes T2DM minor allele frequency MAF BMI HOMA-IR HWE Hardy–Weinberg equilibrium Replication SNP body-mass index homeostasis model assessment for insulin resistance single nucleotide polymorphism