Risk of Parkinson Disease in Carriers of Parkin Mutations

Efficient estimation of nonparametric genetic risk function with censored data

“…The risk of Parkinson's disease in non-carriers is quite high compared to general non-Ashkenazi Jews, whose risk is normally 1%, indicating that they may have other risk mutations for Parkinson's disease. The estimated lifetime cumulative risk is consistent with some previous findings in Ashkenazi Jews for leucine-rich repeat kinase 2 mutation carriers (Wang et al, 2008), but it contrasts with some other studies, which estimate risk of Parkinson's disease to be 100% in leucine-rich repeat kinase 2 carriers (Lesage, 2005). Methodological issues including assigning individuals with unobserved leucine-rich repeat kinase 2 genotypes to carrier or non-carrier groups based on their Parkinson's disease status may have contributed to this large difference with those studies.…”

Efficient estimation of nonparametric genetic risk function with censored data

“…The risk of Parkinson's disease in non-carriers is quite high compared to general non-Ashkenazi Jews, whose risk is normally 1%, indicating that they may have other risk mutations for Parkinson's disease. The estimated lifetime cumulative risk is consistent with some previous findings in Ashkenazi Jews for leucine-rich repeat kinase 2 mutation carriers (Wang et al, 2008), but it contrasts with some other studies, which estimate risk of Parkinson's disease to be 100% in leucine-rich repeat kinase 2 carriers (Lesage, 2005). Methodological issues including assigning individuals with unobserved leucine-rich repeat kinase 2 genotypes to carrier or non-carrier groups based on their Parkinson's disease status may have contributed to this large difference with those studies.…”

Combining isotonic regression and EM algorithm to predict genetic risk under monotonicity constraint

“…In contrast, the risk for heterozygous carriers closely resembles the risk in non-carriers. This result that being a heterozygous carrier has essentially similar risk to being a non-carrier was also observed in another study (Wang et al, 2008). Further investigation in a larger study is needed to examine whether risk differs in any subgroup.…”

“…Moreover, the type I NPMLE provided a higher cumulative risk in non-carriers by age 70 (17%) which appear to be higher than reported in other epidemiological studies (e.g., Wang et al (2008)). The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I especially at the right tail area.…”

“…In comparison to the EM-PAVA, the type I NPMLE had wide and nonmonotone confidence intervals, which altered the inference conclusions and is undesirable (see Table 7). Moreover, the type I NPMLE provided a higher cumulative risk in noncarriers by age 70 (17%), which appears to be higher than reported in other epidemiological studies [e.g., Wang et al (2008)]. The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I, especially at the right-tail area.…”

Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease

“…1A). This frequency was significantly higher than the values reported in most populations worldwide 12–18. The frequency of EOPD patients that carry exon deletions and duplications in PARK2 in European populations varies from 1.3% (Serbia) to 6% (Germany) 19–21.…”

Efficient estimation of nonparametric genetic risk function with censored data

“…The risk of Parkinson's disease in non-carriers is quite high compared to general non-Ashkenazi Jews, whose risk is normally 1%, indicating that they may have other risk mutations for Parkinson's disease. The estimated lifetime cumulative risk is consistent with some previous findings in Ashkenazi Jews for leucine-rich repeat kinase 2 mutation carriers (Wang et al, 2008), but it contrasts with some other studies, which estimate risk of Parkinson's disease to be 100% in leucine-rich repeat kinase 2 carriers (Lesage, 2005). Methodological issues including assigning individuals with unobserved leucine-rich repeat kinase 2 genotypes to carrier or non-carrier groups based on their Parkinson's disease status may have contributed to this large difference with those studies.…”

Combining isotonic regression and EM algorithm to predict genetic risk under monotonicity constraint

“…In contrast, the risk for heterozygous carriers closely resembles the risk in non-carriers. This result that being a heterozygous carrier has essentially similar risk to being a non-carrier was also observed in another study (Wang et al, 2008). Further investigation in a larger study is needed to examine whether risk differs in any subgroup.…”

“…Moreover, the type I NPMLE provided a higher cumulative risk in non-carriers by age 70 (17%) which appear to be higher than reported in other epidemiological studies (e.g., Wang et al (2008)). The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I especially at the right tail area.…”

“…In comparison to the EM-PAVA, the type I NPMLE had wide and nonmonotone confidence intervals, which altered the inference conclusions and is undesirable (see Table 7). Moreover, the type I NPMLE provided a higher cumulative risk in noncarriers by age 70 (17%), which appears to be higher than reported in other epidemiological studies [e.g., Wang et al (2008)]. The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I, especially at the right-tail area.…”

Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease

“…1A). This frequency was significantly higher than the values reported in most populations worldwide 12–18. The frequency of EOPD patients that carry exon deletions and duplications in PARK2 in European populations varies from 1.3% (Serbia) to 6% (Germany) 19–21.…”

Efficient estimation of nonparametric genetic risk function with censored data

“…The risk of Parkinson's disease in non-carriers is quite high compared to general non-Ashkenazi Jews, whose risk is normally 1%, indicating that they may have other risk mutations for Parkinson's disease. The estimated lifetime cumulative risk is consistent with some previous findings in Ashkenazi Jews for leucine-rich repeat kinase 2 mutation carriers (Wang et al, 2008), but it contrasts with some other studies, which estimate risk of Parkinson's disease to be 100% in leucine-rich repeat kinase 2 carriers (Lesage, 2005). Methodological issues including assigning individuals with unobserved leucine-rich repeat kinase 2 genotypes to carrier or non-carrier groups based on their Parkinson's disease status may have contributed to this large difference with those studies.…”

Combining isotonic regression and EM algorithm to predict genetic risk under monotonicity constraint

“…In contrast, the risk for heterozygous carriers closely resembles the risk in non-carriers. This result that being a heterozygous carrier has essentially similar risk to being a non-carrier was also observed in another study (Wang et al, 2008). Further investigation in a larger study is needed to examine whether risk differs in any subgroup.…”

“…Moreover, the type I NPMLE provided a higher cumulative risk in non-carriers by age 70 (17%) which appear to be higher than reported in other epidemiological studies (e.g., Wang et al (2008)). The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I especially at the right tail area.…”

“…In comparison to the EM-PAVA, the type I NPMLE had wide and nonmonotone confidence intervals, which altered the inference conclusions and is undesirable (see Table 7). Moreover, the type I NPMLE provided a higher cumulative risk in noncarriers by age 70 (17%), which appears to be higher than reported in other epidemiological studies [e.g., Wang et al (2008)]. The poor performance of the type I NPMLE can be due to instability and inefficiency of the type I, especially at the right-tail area.…”

Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease

“…1A). This frequency was significantly higher than the values reported in most populations worldwide 12–18. The frequency of EOPD patients that carry exon deletions and duplications in PARK2 in European populations varies from 1.3% (Serbia) to 6% (Germany) 19–21.…”