Ben Salem Assila, Attaoua Redha, Mtiraoui Nabil, Belkahla Sana, Ezzidi Intissar, Ajina Mounir, Souissi Moncef, Poucheret Patrick, Vintila Madalina, Grigorescu Florin, Mahjoub Touhami
Laboratory of Human Genome and multifactorial diseases, LR12ES07, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia,
Mol Biol Rep. 2014 Oct;41(10):6569-74. doi: 10.1007/s11033-014-3540-8. Epub 2014 Jul 4.
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.
近期研究表明，钙蛋白酶-10（CAPN10）基因多态性在多囊卵巢综合征（PCOS）易感性中起作用。本研究旨在评估CAPN10基因中的三个单核苷酸多态性（SNP）：UCSNP-43（rs3792267）、UCSNP-19（rs3842570）和UCSNP-63（rs5030952）与突尼斯PCOS患者及对照女性之间的可能关联。研究对象包括127例PCOS女性（平均年龄29.8±4.7岁）和150例健康女性（平均年龄33.5±5.6岁）。通过直接PCR和PCR-RFLP进行CAPN10基因分型。利用HAPLOVIEW 4.2确定所探索基因组区域的连锁不平衡模式，同时使用PHASE 2.1进行单倍型重建。通过ARLEQUIN 2.000确定群体中单倍型的系统发育分布。观察到六种单倍型。没有SNP与PCOS或其组成部分相关联，而单倍型H4与PCOS-肥胖表型相关（P<0.025）。此外，单倍型对H1/H4与高血压密切相关（OR=14.4，P<0.012）。这项工作证实了CAPN10基因与PCOS代谢成分的关联，并突出了单倍型作为强大而有效的遗传标记的作用。
