title: Common polymorphisms of calpain-10 and the risk of polycystic ovary syndrome in Tunisian population: a case-control study.
abstract: 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.
authors.affiliation: Laboratory of Human Genome and multifactorial diseases, LR12ES07, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia, assila.bensalem@gmail.com.
authors.forename: Assila
authors.initials: A
authors.lastname: Ben Salem
authors.forename: Redha
authors.initials: R
authors.lastname: Attaoua
authors.forename: Nabil
authors.initials: N
authors.lastname: Mtiraoui
authors.forename: Sana
authors.initials: S
authors.lastname: Belkahla
authors.forename: Intissar
authors.initials: I
authors.lastname: Ezzidi
authors.forename: Mounir
authors.initials: M
authors.lastname: Ajina
authors.forename: Moncef
authors.initials: M
authors.lastname: Souissi
authors.forename: Patrick
authors.initials: P
authors.lastname: Poucheret
authors.forename: Madalina
authors.initials: M
authors.lastname: Vintila
authors.forename: Florin
authors.initials: F
authors.lastname: Grigorescu
authors.forename: Touhami
authors.initials: T
authors.lastname: Mahjoub
mesh_terms: D000328:Adult; D000483:Alleles; D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D010802:Phylogeny; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D014416:Tunisia
chemical_list: D002154:Calpain; C415197:calpain 10