BACKGROUND<\/p>\n
Numerous studies have reported CFTR<\/I> mutations in CBAVD (congenital bilateral absence of the vas deferens) patients, but their results are not completely consistent. Here, we present a systemic review and meta-analysis with emphasis on clarifying further the genetic association of CFTR<\/I> mutations with CBAVD.<\/p>\n
METHODS<\/p>\n
We searched the MEDLINE database until March, 2011 for eligible articles reporting CFTR<\/I> mutations in CBAVD. Relevant data from each included study were abstracted by two independent reviewers. The overall frequency of CFTR<\/I> mutations in CBAVD and the odds ratio (OR) for common specific alleles were pooled under random-effect or fixed-effect model as appropriate. Subgroup analysis was performed by ethnicity, and potential heterogeneity and bias were both assessed.<\/p>\n
RESULTS<\/p>\n
Among CBAVD patients, 78% had at least one CFTR<\/I> mutation, 46% having two and 28% only one. Moreover, the common heterozygous F508del\/5T and F508del\/R117H were observed in 17 and 4% of CBAVD cases respectively, and the allele frequency in CBAVD was 17% for F508del, 25% for 5T and 3% for R117H. Subgroup analysis indicated an increased frequency of cases with two mutations in Caucasian patients than in Non-Caucasian (68 versus 50%, P<\/I>= 0.012), but no differences for cases with at least one mutation (88 versus 77%, P<\/I>= 0.163) or with only one mutation (17 versus 25%, P<\/I>= 0.115). Caucasian patients had higher F508del frequency, but lower 5T frequency, than Non-Caucasian (22 versus 8%, P<\/I>= 0.001; 20 versus 31%, P<\/I>= 0.009). Summary OR was 9.25 for 5T [95% confidence interval (CI) 7.07–12.11, P<\/I>= 0.000], with moderate heterogeneity (I<\/I>2<\/sup>= 49.20%, P<\/I>= 0.019) and evident bias (Egger's test, P<\/I>= 0.005), and it was 19.43 for 5T\/(TG)12_13 (95% CI 10.48–30.03, P<\/I>= 0.000) without any evidence of heterogeneity (I<\/I>2<\/sup>= 0.1%, P<\/I>= 0.391) and bias (Egger's test, P<\/I>= 0.160). The OR for 5T\/(TG)12_13 was significantly higher than that for 5T allele (P<\/I>= 0.000).<\/p>\n CONCLUSIONS<\/p>\n In summary, our results demonstrate a high frequency of CFTR<\/I> mutations in CBAVD patients, and these exhibit evident ethnic differences. In addition, 5T allele and 5T\/(TG)12_13 may contribute to the increased risk for CBAVD, with the 5T penetrance probably being modulated by adjacent (TG)12_13.<\/p>\n Source: BACKGROUND Numerous studies have reported CFTR mutations in CBAVD (congenital bilateral absence of the vas deferens) patients, but their results are not completely consistent. Here, we present a systemic review and meta-analysis with emphasis on clarifying further the genetic association … Continue reading
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