[Relationship between single nucleotide polymorphism-56 of calpain-10 gene and glucose and lipid metabolism in polycystic ovary syndrome patients].

OBJECTIVE: To investigate the relationship between single nucleotide polymorphism-56 (SNP-56) in calpain-10 (CAPN-10) gene and polycystic ovary syndrome (PCOS) in Chinese. METHODS: The genotypes of SNP-56 of CAPN-10 were determined through polymerase chain reaction Tm-shift genotyping method in 638 local women in Shandong Province. Among them, 334 were patients with PCOS (PCOS group) and 304 were normal women (control group). The baseline parameters including levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), estradiol (E2), testosterone (T) and lipid,as well as the body mass index (BMI) and waist/hip ratio (WHR) were measured. Glucose tolerance and insulin releasing before and after loading with 75 g of glucose were also assayed. RESULTS: (1) The frequencies of two allelotypes or three genotypes did not differ between PCOS women and normal women (P > 0.05). (2) In PCOS group, patients with AA genotype had a significantly higher plasma glucose of 180 minutes OGTT (5.7 +/- 2. 2)mmol/L [P < 0.01 compared to GA genotype (4.9 +/- 1.2) mmol/L, P < 0.01 compared to GG genotype (4.9 +/- 1.4) mmol/L] and serum total cholesterol (TC) level (4.9 +/- 1.0) mmol/L [P < 0.05 compared to GA genotype (4.5 +/- 0.9) mmol/L]. (3) Compared to PCOS patients with GA + GG genotype (P < 0.05, P < 0.01) or GG genotype (P < 0.05, P < 0.01), there was significantly higher attack rate of diabetes and tumor in the family history of patients with AA genotype. CONCLUSIONS: These findings suggest that CAPN-10 gene SNP-56 which may not contribute to the genetic susceptibility of PCOS plays a role in glucose and lipid metabolism in Chinese PCOS patients. It may also be correlated with attack rate of diabetes and tumor in the family history of PCOS patients.

Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages.

Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case-control study, we determined the impact of CGG trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in 49 women with unexplained recurrent miscarriages. Case group consisted of women with two or more unexplained consecutive miscarriages. Blood samples were obtained and checked for the presence of expanded alleles of the FMR1 gene using PCR. Patients harboring the expanded allele, with a threshold set to 40 repeats, were further evaluated by sequencing. The number of abortions each woman had, was not associated with her respective CGG repeat number (P=0.255). The repeat sizes of CGG expansion in the FMR1 gene were significantly different in the two population groups (P=0.027). All the positive cases involved intermediate zone carriers. Hence, the CGG expanded allele of the FMR1 gene might be associated with unexplained multiple miscarriages; whether such an association is coincidental or causal can be confirmed by future studies using a larger patient cohort.