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

被引：104

作者：

Unsal, Tugba ^{[1
]}

Konac, Ece ^{[1
]}

Yesilkaya, Ediz ^{[2
]}

Yilmaz, Akin ^{[1
]}

Bideci, Aysun ^{[2
]}

Onen, Hacer Ilke ^{[1
]}

Cinaz, Peyami ^{[2
]}

Menevse, Adnan ^{[1
]}

机构：

[1] Gazi Univ, Dept Med Biol & Genet, Fac Med, TR-6500 Ankara, Turkey

[2] Gazi Univ, Dept Pediat Endocrinol, Fac Med, TR-6500 Ankara, Turkey

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2009年 / 26卷 / 04期

关键词：

Adolescent girl; Genetic polymorphisms; Polycystic ovary syndrome; FOLLICLE-STIMULATING-HORMONE; INSULIN-RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TYPE-2; DIABETES-MELLITUS; CALPAIN-10; GENE; CANCER SUSCEPTIBILITY; GENOMIC VARIANTS; CHILEAN WOMEN; CHINESE WOMEN; PAI-1;

D O I：

10.1007/s10815-009-9308-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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

引用

页码：205 / 216

页数：12

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