Common polymorphisms of calpain-10 and the risk of polycystic ovary syndrome in Tunisian population: a case–control study

被引：4

作者：

Assila Ben Salem

Redha Attaoua

Nabil Mtiraoui

Sana Belkahla

Intissar Ezzidi

Mounir Ajina

Moncef Souissi

Patrick Poucheret

Madalina Vintila

Florin Grigorescu

Touhami Mahjoub

机构：

[1] University of Monastir,Laboratory of Human Genome and multifactorial diseases, LR12ES07, Faculty of Pharmacy of Monastir

[2] IURC,Molecular Endocrinology Laboratory, Nutrition & Genomes Team

[3] UMR-204,Unit of Reproductive Medicine

[4] NUTRIPASS,Department of Obstetrics and Gynecology

[5] University Hospital F. Hached,Pharmacology and Experimental Physiology Laboratory

[6] CHU Tahar Sfar,undefined

[7] Faculty of Pharmacy,undefined

来源：

Molecular Biology Reports | 2014年 / 41卷

关键词：

Polycystic ovary syndrome; SNP; Haplotype; Association;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Recent studies have suggested that calpain-10 (CAPN10) gene polymorphisms play a role in the susceptibility to polycystic ovary syndrome (PCOS). The aim of the present study was to evaluate the possible association between three single nucleotide polymorphisms (SNPs) in CAPN10 gene: UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) and PCOS in Tunisian cases and control women. Study subjects included 127 women with PCOS (mean age 29.8 ± 4.7 year) and 150 healthy women (mean age 33.5 ± 5.6 year). CAPN10 genotyping was carried-out by direct PCR and PCR–RFLP. Linkage disequilibrium pattern in the genomic region explored was determined by HAPLOVIEW 4.2 while reconstruction of haplotypes was done using PHASE 2.1. The phylogenetic distribution of haplotypes in the population was determined by ARLEQUIN 2.000. Six haplotypes were observed. None of SNPs associated with PCOS or its components while the haplotype H4 associated with the phenotype PCOS-obese (P < 0.025). Moreover the pair of haplotypes H1/H4 strongly associated with high blood-pressure (OR = 14.4, P < 0.012). This work confirms the association of CAPN10 gene with metabolic components in PCOS and highlights the role of haplotypes as strong and efficient genetic markers.

引用

页码：6569 / 6574

页数：5

共 156 条

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