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

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: CAPN10, SERPINE1

J Assist Reprod Genet. 2009 Apr 22.

Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, Cinaz P, Menevse A.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, 6500, Ankara, Turkey.

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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Melanocortin-4 receptor gene polymorphisms in obese patients.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: Melanocortin-4 Receptor

Biochem Genet. 2009 Apr;47(3-4):295-300.

Yurtcu E, Yilmaz A, Ozkurt Z, Kolukisa E, Yilmaz M, Keles H, Ergun MA, Yetkin I, Menevse A.

Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey. erkan_yurtcu@yahoo.com

Obesity is a complex disease caused by both genetics and environmental factors. Melanocortin-4 receptor (MC4R) (MIM 155541) gene polymorphisms were reported to be the cause of monogenic obesity in humans. We studied three polymorphisms (Val50Met, Val103Ile, and Ser58Cys) and a mutation (Asn274Ser) of the MC4R gene in 203 obese patients and in 110 healthy subjects in the Turkish population. A high incidence of Val103Ile and Val50Met polymorphisms as well as the Asn274Ser mutation was found in the obese patients, whereas no significant correlation was found regarding the Ser58Cys polymorphism. We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.


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