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In our study, we observed no association between the examined variant and increased family history.
Our analyses based on a recessive transmission model suggested an association between the BRCA2 N372H variant and increased MBC risk in men younger than 60 years.
23, 24 Association between the BRCA2 N372H variant and increased breast cancer risk in particular has been reported from population-based studies.
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Associations of IRF5 (interferon regulator factor 5) genetic variants and increased SLE risk have been highly replicated [25].
The close relationship between genetic variants and increased susceptibility to bronchial obstruction has been repeatedly reported [ 26, 27].
However, the importance of the original SNP (Val158Met) has been disputed [ 50], and the link between the COMT variants and increased pain perception does not replicate across populations.
The discovery of polymorphisms in MMP promoters that alter gene expression has revealed strong associations between these genetic variants and increased susceptibility to the development of malignancies and other diseases (Henney et al, 2000; Ye, 2000).
However, association was found between FTO risk variants and increased energy intake in adults [ 101– 103] and decreased satiety [ 103], but not for energy expenditure [ 101, 102] or physical activity [ 100, 104].
Of interest, a recent follow-up study of 288 superficial bladder cancer patients showed no association between XPC-PAT or Lys939Gln variants and increased risk of tumour recurrence (Gu et al, 2005).
A recent study reported a significant association between a genetic score based on multiple diabetes-predisposing variants and increased risk of coronary heart disease (CHD) in a general population (2).
Although RNA-seq is still in the early stages of use in clinical studies, it has clear advantages over the array based transcriptomic methods, based on its ability to discover novel transcripts, identify sequence variants, and increased dynamic range of signals leading to increase fold change in measured expression levels.
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