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. 2009 Apr;26(4):205-16.
doi: 10.1007/s10815-009-9308-8. Epub 2009 Apr 22.

Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome

Affiliations

Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome

Tugba Unsal et al. J Assist Reprod Genet. 2009 Apr.

Abstract

Background: Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls.

Methods: DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (-34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one polymorphism) of INSR gene by direct DNA sequencing was performed for the first time in this study.

Results: No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups.

Conclusion: Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls.

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Figures

Fig. 1
Fig. 1
Direct sequencing results for exon 12 of INSR gene. (A) Homozygous GG genotype corresponds to rs16994210 G>A; (B) homozygous GG genotype corresponds to rs35045353 G>A; (C) heterozygous GA genotype corresponds to rs2229434 G>A; (D) homozygous CC genotype corresponds to rs2162771 C>T; (E) homozygous CC genotype corresponds to rs1541806 C>T; (F) heterozygous GC genotype corresponds to rs2229430 G>C and (G) for intron 12 of the gene, homozygous AA genotype corresponds to rs13306451 A>G

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