Functional genetic polymorphisms and female reproductive disorders: Part I: polycystic ovary syndrome and ovarian response

Abstract

BACKGROUNDThe identification of polymorphisms associated with a disease can help to elucidate its pathogenesis, and this knowledge can be used to improve prognosis for women with a particular disorder, such as polycystic ovary syndrome (PCOS). Since an altered response to ovarian stimulation is also a characteristic of the disease, further knowledge about its aetiology could help in defining the parameters that determine the response of an individual to ovarian stimulation.METHODSPubMed and EMBASE databases were systematically searched for gene association studies published until the end of August 2007, using search criteria relevant to PCOS and ovarian response to stimulation. Data from additional papers identified through hand searches were also included; 139 publications were reviewed.RESULTSSeveral genes involved in ovarian function and metabolism are associated with increased susceptibility to PCOS, but none is strong enough to correlate alone with susceptibility to the disease, or response to therapy. A single-nucleotide polymorphism in exon 10 of the FSH receptor (FSHR) gene, FSHR p.N680S, was consistently identified as having a significant association with ovarian response to FSH.CONCLUSIONSNo consistent association between gene polymorphism and PCOS could be identified. The FSHR gene may play a significant role in the success of ovarian stimulation, and can be used as a marker to predict differences in FSHR function and ovarian response to FSH. Genotyping the FSHR p.N680S polymorphism may provide a means of identifying a population of poor responders before in vitro fertilization procedures are initiated.

Gene–gene interaction among cytokine polymorphisms influence susceptibility to aggressive periodontitis

“…All gene polymorphisms examined in the present study were Gene-gene interaction and AgP susceptibility C Scapoli et al functional variants, [18][19][20][21][22] affecting either the amount or the activity of the protein produced from each gene. As complex diseases, such as periodontitis, are typically polygenic, 23 they are associated with variations in multiple genes, each providing a small overall contribution to the disease susceptibility and to the severity of the pathologic process.…”

Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome

“…This was in contrast to LHCGR rs7371084 and rs4953616 variants, which apparently modulate the phenotype of women with PCOS predominantly at the level of hyperandrogenism (markedly higher testosterone, BT, and FAI). However, the contribution of these and related variants to the phenotype of PCOS may be marginal, and hence may require the association of other genetic variants for the phenotypic changes to be more pronounced [35].…”

Peroxisome proliferator activated receptor gamma gene variants influence susceptibility and insulin related traits in Indian women with polycystic ovary syndrome

“…Evidence suggests that the association of PPARγ polymorphisms with PCOS and its related traits in different populations are controversial due to differences in lifestyle, environmental factors as well as the sample size studied [26]. Despite these, importance still remains to investigate in a given population, the role of a candidate gene entailed in The final logit model is log (π/1−π)=β0+β1 BMI+β2 WHR+β3 TG+β4 QUICKI+β5 Fasting Insulin+β6 LDL; where π is the probability of being affected.…”