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The short-term scaling exponent alpha1 of detrended fluctuation analysis (DFA a1), a nonlinear index of heart rate variability (HRV) based on fractal correlation properties, has been shown to steadily change with increasing exercise intensity. To date, no study has specifically examined using the behavior of this index as a method for defining a low intensity exercise zone. The aim of this report is to compare both oxygen intake (VO\(_{2}\)) and heart rate (HR) reached at the first ventilatory threshold (VT1), a well-established delimiter of low intensity exercise, to those derived from a predefined DFA a1 transitional value. Gas exchange and HRV data were obtained from 15 participants during an incremental treadmill run. Comparison of both VO\(_{2}\) and HR reached at VT1 defined by gas exchange (VT1 GAS) was made to those parameters derived from analysis of DFA a1 reaching a value of 0.75 (HRVT). Based on Bland Altman analysis, linear regression, intraclass correlation (ICC) and t testing, there was strong agreement between VT1 GAS and HRVT as measured by both HR and VO\(_{2}\). Mean VT1 GAS was reached at 39.8 ml/kg/min with a HR of 152 bpm compared to mean HRVT which was reached at 40.1 ml/kg/min with a HR of 154 bpm. Strong linear relationships were seen between test modalities, with Pearson’s r values of 0.99 (p < 0.001) and.97 (p < 0.001) for VO\(_{2}\) and HR comparisons, respectively. Intraclass correlation between VT1 GAS and HRVT was 0.99 for VO\(_{2}\) and 0.96 for HR. In addition, comparison of VT1 GAS and HRVT showed no differences by t testing, also supporting the method validity. In conclusion, it appears that reaching a DFA a1 value of 0.75 on an incremental treadmill test is closely associated with crossing the first ventilatory threshold. As training intensity below the first ventilatory threshold is felt to have great importance for endurance sport, utilization of DFA a1 activity may provide guidance for a valid low training zone.
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.