Polymorphism Of Calpain10 Gene In Patients With Polycystic Ovary Syndrome

Objective: Polycystic ovary syndrome (PCOS) is the common dysfunctional disease in endocrine and reproduction. Some studies indicated that insulin resistance was not only the character but also the main pathological base of PCOS, and might play a role in early onset. The Calpain10 gene(CAPN10) is gene that it was first positional cloned and was associated with type 2 diabetes mellitus. The variation in the gene may provoke insulin resistance. The aims of the present study were to investigate the relationship between single nucleotide polymorphisms of calpain10 gene (SNP-43,SNP-19) and polycystic ovary syndrome(PCOS), and to elucidate its role in the pathogenesis of PCOS.Methods: The polymorphisms of SNP-43 G/A and SNP-19 Ins/del in calpain10 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 111 controls and 98 PCOS patients who were divided into obese PCOS and non-obese PCOS, PCOS with insulin resistance (IR) and PCOS without IR by BMI and HOMA-IR. Frequencies of genotypes and allele, metabolic parameters were compared between the groups.Results: (1) The frequency of G allele of SNP-43 were 100% in both PCOSand control group, A allele was not found. Comparision between PCOS and controlgroup was not significant(P>0.05).The frequencies of del/del genotype and del alleleof SNP-19 in PCOS patients were increased as compared with that in the controls(12.3 % vs 9.9%, 32.7% vs 30.9% ) ,but this difference is not significant (P> 0.05); (2)The frequency of G allele and GG genotype of SNP-43 is 100% in both obese PCOS and non-obese PCOS , the difference is not significant (P>0.05) ; the same result is in both PCOS with IR and PCOS without IR group. The frequency of del/del genotype and del allele of SNP-19 is higher in obese PCOS than in non-obese PCOS(16.0% vs 8.3%, 35.0% vs 30.2%) and higher in PCOS with IR than in the PCOS without IR(15.8% vs 7.4%, 34.2% vs 30.5%) ,this difference is not significant(P>0.05) . (3) The frequency of G allele of the SNP-43 is 100% in PCOS higher than in other populations (76%, 65%) , the difference is significant (P<0.05) ;The frequency of del allele of the SNP-19 is lower in Chinese PCOS (32.7%) than in United King and African-American PCOS (42.5%, 66%), the difference is significant(P<0.05) .Conclusions: (1) This study suggested that SNP-43 and SNP-19 in calpain 10 gene may not contribute to the genetic susceptibility of PCOS in Han women of Shandong; (2)The G allele, GG genotype of SNP-43 and the del allele, del/del genotype of SNP-19 have no association with obesity and insulin resistance in PCOS; (3) Distribution of alleles of SNP-43 and alleles of SNP-19 in calpain 10 gene is different among populations.