Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome. Mlinar B et al. Polycystic ovary syndrome (PCOS) is a common endocrine disorder associated with increased prevalence of insulin resistance (IR). IR could be implicated in PCOS etiology and represents the major cause of cardiometabolic complications. The aim of present study was to investigate for the first time the association of lipin 1 gene polymorphisms with metabolic and hormonal profile in PCOS patients and controls. Into a case-control study 371 individuals were enrolled: 222 PCOS patients and 149 controls. Two lipin 1 gene polymorphisms were analyzed: rs11693809 (intron 1 SNP) and rs2716610 (intron 17 SNP) using fluorescent hydrolyzing probes. Body mass index, fasting plasma insulin and glucose along with androgen profile were measured in all subjects. Plasma lipids were measured in 93 patients and 43 controls and oral glucose test (OGTT) was performed on 68 PCOS patients. C/T heterozygotes for intron 1 SNP had significantly lower LDL-cholesterol than wild type C/C homozygotes (p=0.026) in the control group. In PCOS patients, mutated T/T homozygotes exhibited significantly lower glucose after OGTT than heterozygotes (p=0.033). Similarly, in nonobese PCOS patients, intron 1 SNP T/T homozygotes had lower HOMA-IR than heterozygotes (p=0.009). For intron 17 SNP, mutated C/T+T/T genotypes were associated with higher plasma triglycerides in controls (p=0.039). Genotype and allele frequencies were similar between PCOS patients and controls for both SNPs. Our results show that, in PCOS patients, intron 1 SNP is protective against IR and glucose intolerance suggesting that lipin 1 variation could be one of the genetic factors in cardiometabolic complications of PCOS.