Tags

Type your tag names separated by a space and hit enter

Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome.
Gene 2012; 504(1):133-9GENE

Abstract

The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, is one of the most common hormonal disorders among premenopausal women and is associated with infertility, obesity, and insulin resistance. Accumulating evidence suggests a role of the blood coagulation factor gene F13A1 in obesity (GeneBank ID: NM_000129.3). The aim of this study was to investigate the association of intronic allelic variants of the F13A1 gene with PCOS susceptibility and metabolic parameters in lean and obese PCOS women. In a case-control study, we determined an intronic F13A1 single nucleotide polymorphism (SNP) (dbSNP ID: rs7766109) in 585 PCOS and 171 control women and tested for PCOS susceptibility and associations with anthropometric, metabolic and hormonal parameters. Genotype frequencies of the F13A1 SNP rs7766109 were equivalent in PCOS and control women. In PCOS women, F13A1 gene variants were significantly associated with body mass index (BMI) (p=0.013), systolic blood pressure (p=0.042), insulin response (AUCins) (p=0.015), triglycerides (TG) (p=0.001), and high density lipoprotein cholesterol (HDL) (p=0.012). In the subgroup of obese PCOS women free androgen index (FAI), free testosterone and sex hormone binding globulin (SHBG) as well as glucose measurements showed a significantly different pattern across F13A1 gene variants (p=0.043; p=0.039 and p=0.013, respectively). We report for the first time an association of the F13A1 SNP rs7766109 with BMI, androgens, and insulin resistance in PCOS women. Further studies are needed to confirm our findings and to evaluate whether F13A1 is causally involved in the pathogenesis of PCOS related metabolic and hormonal disturbances.

Authors+Show Affiliations

Medical University of Graz, Division of Endocrinology and Metabolism, Department of Internal Medicine, Auenbruggerplatz 15, 8036 Graz, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22565190

Citation

Schweighofer, N, et al. "Androgen Levels and Metabolic Parameters Are Associated With a Genetic Variant of F13A1 in Women With Polycystic Ovary Syndrome." Gene, vol. 504, no. 1, 2012, pp. 133-9.
Schweighofer N, Lerchbaum E, Trummer O, et al. Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome. Gene. 2012;504(1):133-9.
Schweighofer, N., Lerchbaum, E., Trummer, O., Schwetz, V., Pilz, S., Pieber, T. R., & Obermayer-Pietsch, B. (2012). Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome. Gene, 504(1), pp. 133-9. doi:10.1016/j.gene.2012.04.050.
Schweighofer N, et al. Androgen Levels and Metabolic Parameters Are Associated With a Genetic Variant of F13A1 in Women With Polycystic Ovary Syndrome. Gene. 2012 Aug 1;504(1):133-9. PubMed PMID: 22565190.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Androgen levels and metabolic parameters are associated with a genetic variant of F13A1 in women with polycystic ovary syndrome. AU - Schweighofer,N, AU - Lerchbaum,E, AU - Trummer,O, AU - Schwetz,V, AU - Pilz,S, AU - Pieber,T R, AU - Obermayer-Pietsch,B, Y1 - 2012/04/28/ PY - 2011/12/07/received PY - 2012/03/08/revised PY - 2012/04/18/accepted PY - 2012/5/9/entrez PY - 2012/5/9/pubmed PY - 2012/8/29/medline SP - 133 EP - 9 JF - Gene JO - Gene VL - 504 IS - 1 N2 - The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, is one of the most common hormonal disorders among premenopausal women and is associated with infertility, obesity, and insulin resistance. Accumulating evidence suggests a role of the blood coagulation factor gene F13A1 in obesity (GeneBank ID: NM_000129.3). The aim of this study was to investigate the association of intronic allelic variants of the F13A1 gene with PCOS susceptibility and metabolic parameters in lean and obese PCOS women. In a case-control study, we determined an intronic F13A1 single nucleotide polymorphism (SNP) (dbSNP ID: rs7766109) in 585 PCOS and 171 control women and tested for PCOS susceptibility and associations with anthropometric, metabolic and hormonal parameters. Genotype frequencies of the F13A1 SNP rs7766109 were equivalent in PCOS and control women. In PCOS women, F13A1 gene variants were significantly associated with body mass index (BMI) (p=0.013), systolic blood pressure (p=0.042), insulin response (AUCins) (p=0.015), triglycerides (TG) (p=0.001), and high density lipoprotein cholesterol (HDL) (p=0.012). In the subgroup of obese PCOS women free androgen index (FAI), free testosterone and sex hormone binding globulin (SHBG) as well as glucose measurements showed a significantly different pattern across F13A1 gene variants (p=0.043; p=0.039 and p=0.013, respectively). We report for the first time an association of the F13A1 SNP rs7766109 with BMI, androgens, and insulin resistance in PCOS women. Further studies are needed to confirm our findings and to evaluate whether F13A1 is causally involved in the pathogenesis of PCOS related metabolic and hormonal disturbances. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/22565190/Androgen_levels_and_metabolic_parameters_are_associated_with_a_genetic_variant_of_F13A1_in_women_with_polycystic_ovary_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(12)00476-3 DB - PRIME DP - Unbound Medicine ER -