| Autor: |
Capalbo, A., Sagnella, F., Apa, R., Fulghesu, A. M., Lanzone, A., Morciano, A., Farcomeni, A., Gangale, M. F., Moro, F., Martinez, D., Ciardulli, A., Palla, C., Uras, M. L., Spettu, F., Cappai, A., Carcassi, C., Neri, G., Tiziano, F. D. |
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| Zdroj: |
Clinical Endocrinology; Jul2012, Vol. 77 Issue 1, p113-119, 7p, 4 Charts |
| Abstrakt: |
Objective Polycystic ovary syndrome ( PCOS) is a frequent condition, affecting about 15% of women of reproductive age. Because of its familial occurrence, a multifactorial model of susceptibility, including both genetic and environmental factors, has been proposed. However, the identification of genetic factors has been elusive. Design Case-control study aimed at evaluating possible associations between functionally relevant variants of the luteinizing hormone/choriogonadotrophin receptor gene ( LHCGR) and PCOS phenotype. Patients A total of 198 PCOS and 187 non- PCOS women, aged 14-35 years, of Sardinian origin, were referred to the outpatient clinic of the Department of Obstetrics and Gynaecology of the University of Cagliari ( Sardinia). PCOS diagnosis was based on the Rotterdam criteria. Measurements We determined the genotype of ins18 LQ, S291 N and S312 N variants at the LHCGR locus. Genotype was related to the presence or absence of PCOS and to several clinical and biochemical characteristics. Results The presence of at least one 312 N allele was strongly associated with PCOS risk ( OR, 2·04; 95% CI, 1·32-3·14; χ2, 10·47; P = 0·001). 312 N homozygosity was associated with a further risk increase ( OR, 2·73; 95% CI, 1·25-5·95; χ2, 6·65; P = 0·01). The number of ins18 LQ alleles was associated with LH serum levels in controls (χ2, 8·04, P = 0·017). Conclusions For the first time, we have identified a genetic variant that is strongly associated with PCOS in an isolated population. These results, if confirmed in other cohorts, may provide the opportunity to test the S312 N genotype at the LHCGR locus in fertile women to assess the risk of PCOS. The avoidance of triggering factors like weight increase may improve the reproductive outcome of potentially at-risk subjects. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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