Our results suggest a direct relationship between increased follicle production during COS and BMP15 alleles in response to rFSH in humans. The use of BMP15 markers to prevent OHSS is also a possibility that requires thorough evaluation.
Polycystic ovary syndrome (PCOS) is characterized by chronic anovulation infertility, hyperandrogenemia, and frequently insulin resistance. This study investigated whether polymorphisms in the CAPN10 gene are related with PCOS etiology. The allelic frequencies and genotypes of CAPN10 polymorphisms UCSNP-44, 43, 19, and 63 were determined in 55 well characterized women with polycystic ovaries and 93 unrelated healthy controls using spectrofluorimetric analyses and real-time PCR. Our data indicate that CAPN10 UCSNP-44 allele is associated with PCOS in the Spanish population (P = 0.01). These results support a role of Calpain 10 gene in PCOS susceptibility in humans.
Recently, several research groups have evaluated CAPN10 gene in polycystic ovarian syndrome (PCOS) patients and other phenotypes, including hirsutism or intermediate phenotypes of PCOS. Molecular genetic analysis of CAPN10 gene indicates that different alleles may play a role in PCOS susceptibility and could be associated with idiopathic hirsutism. However, these observations are not exempt from controversy, because independent studies cannot replicate these preliminary findings. We present a haplotype-phenotype correlation study of CAPN10 haplotypes in 148 women showing ecographically detected polycystic ovaries (PCO) combined with one or more of these clinical symptoms: amenorrhea or severe oligomenorrhea, hyperandrogenism, and anovulatory infertility, as well as 93 unrelated controls. We have reconstructed and analyzed 482 CAPN10 haplotypes in patients and controls. We detected the association of UCSNP-44 allele with PCO phenotype in the Spanish population (P = 0.02). In addition, we identified several CAPN10 alleles associated to phenotypic differences observed between PCO patients, such as the presence of hypercholesterolemia (haplotype 1121, P = 0.005), presence of hyperandrogenic features (P = 0.05), and familial cancer incidence (haplotype 1111, P = 0.0005). Our results confirm the association of UCSNP-44 allele with PCO phenotype in the Spanish population. Moreover, we have identified novel candidate risk alleles and genotypes, within CAPN10 gene, that could be associated with important phenotypic and prognosis differences observed in PCOS patients.
Forty years after the Teneguía Volcano (La Palma, 1971), a submarine eruption took place o the town of La Restinga, south of El Hierro, the smallest and youngest island of the Canarian Archipelago. Precursors allowed an early detection of the event and its approximate location, suggesting it was submarine. Uncertainties derived from insu cient scienti c information available to the authorities during the eruption, leading to disproportionate civil protection measures, which had an impact on the island's economybased primarily on tourism-while residents experienced extra fear and distress.
Background: Genes implicated in common complex disorders such as obesity, type 2 diabetes mellitus (T2DM) or cardiovascular diseases are not disease specific, since clinically related disorders also share genetic components. Cysteine protease Calpain 10 (CAPN10) has been associated with T2DM, hypertension, hypercholesterolemia, increased body mass index (BMI) and polycystic ovary syndrome (PCOS), a reproductive disorder of women in which isunlin resistance seems to play a pathogenic role. The calpain 5 gene (CAPN5) encodes a protein homologue of CAPN10. CAPN5 has been previously associated with PCOS by our group. In this new study, we have analysed the association of four CAPN5 gene variants(rs948976A>G, rs4945140G>A, rs2233546C>T and rs2233549G>A) with several cardiovascular risk factors related to metabolic syndrome in general population.
Cardiovascular disease is the leading cause of morbidity and mortality in the industrialized world. Familial aggregation of cardiovascular risk factors is a frequent finding, but genetic factors affecting its presentation are still poorly understood. The calpain 10 gene (CAPN10) has been associated with type 2 diabetes (T2DM), a complex metabolic disorder with increased risk of cardiovascular disease. Moreover, the CAPN10 gene has been associated with the presence of metabolic syndrome (MS) in T2DM and in polycystic ovary syndrome (PCOS). In this work, we have analysed whether the polymorphisms UCSNP44, -43, -19 and -63 are related to several cardiovascular risk factors in the context of MS. Molecular analysis of CAPN10 gene was performed in 899 individuals randomly chosen from a cross-sectional population-based epidemiological survey. We have found that CAPN10 gene in our population is mainly associated with two indicators of the presence of insulin resistance: glucose levels two hours after a 75-g oral glucose tolerance test (OGTT) and HOMA values, although cholesterol levels and blood pressure values are also influenced by CAPN10 variants. In addition, the 1221/1121 haplogenotype is under-represented in individuals that fulfil the International Diabetes Federation (IDF) diagnostic criteria for MS. Our results suggest that CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population.
Almost exactly half a century after the eruption of the Teneguía Volcano on La Palma (26 October to 28 November 1971), a new eruption occurred on the island and lasted for 85 days from 19 September until 13 December 2021. This new eruption opened a volcanic vent complex on the western flank of the Cumbre Vieja rift zone, the N-S elongated polygenetic volcanic ridge that has developed on La Palma over the last c. 125 ka. The Cumbre Vieja ridge is the volcanically active region of the island and the most active one of the Canary Islands, hosting half of all the historically recorded eruptive events in the archipelago. The 2021 La Palma eruption has seen no direct loss of human life, thanks to efficient early detection and sensible management of the volcanic crisis by the authorities, but more than 2800 buildings and almost 1000 hectares of plantations and farmland were destroyed. Satellite surveillance enabled accurate mapping of the progressive buildup of the extensive and complex basaltic lava field, which together with monitoring of gas emissions informed the timely evacuation of local populations from affected areas. Lava flows that reached the sea constructed an extensive system of lava platforms, similar to events during earlier historical eruptions, such as in 1712, 1949 and 1971. Long-term challenges in the aftermath of the eruption include protection of drainage systems from potential redistribution of tephra during high rainfall events, the use of the large surplus quantities of ash in reconstruction of buildings and in agriculture, and the crucial concerns of where and how rebuilding should and could occur in the aftermath of the eruption. Finally, there remains strong financial concerns over insurance for properties consumed or damaged by the eruption in light of future volcanic hazards from the Cumbre Vieja volcanic ridge.
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