Objectives: We scanned human chromosome 17 to verify previous studies o n the c hromosome as well as to explore possible new loci of essential hypertension in a Chinese Han population. Methods: A genomic scan of chrom...Objectives: We scanned human chromosome 17 to verify previous studies o n the c hromosome as well as to explore possible new loci of essential hypertension in a Chinese Han population. Methods: A genomic scan of chromosome 17 with 15 micros atellite markers was conducted in a total of 757 individuals from 147 Chinese hy pertension pedigrees. We used three softwares to analyse hypertension as a quali tative trait and blood pressure as quantitative phenotypes linkage analyses in t he North group (406 individuals from 78 northern families), the South group (351 individuals from 69 southern families) and the combined group of the Chinese po pulation separately. Results: For qualitative trait, a 7-cM (centiMorgan) inter val flanked by D17S831 (7 cM) and D17S938 (15 cM) showed suggestive linkage resu lts (P < 0.00074) in the southern population by SAGE/SIBPAL2. For blood pressure (BP) quantitative phenotypes, the regions with lowest P values in SAGE and high est logarithm of odds (LOD) scores in SOLAR just overlapped this 7-cM interval in the South group for both systolic blood pressure (SBP) and diastolic blood pr essure(DBP), though these peaks did not yet reach to the suggestive linkage crit eria(P =0.00074, LOD score=2.2). In the northern population, in a region around 75.0 cM(D17S787) a peak was found with non-parametric-linkage (NPL) score 1.82 for qualitative trait using GENEHUNTER. Conclusions: In the southern population of China, our results demonstrate that a 7-cM interval region flanked by D17S8 31 (7 cM) and D17S938 (15 cM) is suggestively linked with hypertension.展开更多
To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for...To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin related male infertility. Association study of male infertility with polymorphisms. National research institute and university hospitals. 123 Japanese men with azoospermia or severe oligozoospermia and 112 men with proven fertility. Polymorphism analysis. The allele and genotype frequencies between infertile men and controls. The allele and genotype frequencies of the AHR polymorphism were comparable between infertile men and controls. By contrast, although the difference in the allele frequency of the AHRR polymorphism did not reach a significant level, the genotype frequency was statistically significantly different between the two groups of men. Furthermore, the statistical difference became more significant when the frequency was compared between the Pro/Pro genotype and the Pro/Ala plus Ala/Ala genotype. The Pro185Ala polymorphism in AHRR may constitute a susceptibility locus for dioxin related male infertility. It appears that the negative feedback effect of AHRR on dioxin related signaling is weaker for the proline allele than for the alanine allele, and that the hypomorphic function of the proline allele exerts a recessive adverse effect on male fertility.展开更多
文摘Objectives: We scanned human chromosome 17 to verify previous studies o n the c hromosome as well as to explore possible new loci of essential hypertension in a Chinese Han population. Methods: A genomic scan of chromosome 17 with 15 micros atellite markers was conducted in a total of 757 individuals from 147 Chinese hy pertension pedigrees. We used three softwares to analyse hypertension as a quali tative trait and blood pressure as quantitative phenotypes linkage analyses in t he North group (406 individuals from 78 northern families), the South group (351 individuals from 69 southern families) and the combined group of the Chinese po pulation separately. Results: For qualitative trait, a 7-cM (centiMorgan) inter val flanked by D17S831 (7 cM) and D17S938 (15 cM) showed suggestive linkage resu lts (P < 0.00074) in the southern population by SAGE/SIBPAL2. For blood pressure (BP) quantitative phenotypes, the regions with lowest P values in SAGE and high est logarithm of odds (LOD) scores in SOLAR just overlapped this 7-cM interval in the South group for both systolic blood pressure (SBP) and diastolic blood pr essure(DBP), though these peaks did not yet reach to the suggestive linkage crit eria(P =0.00074, LOD score=2.2). In the northern population, in a region around 75.0 cM(D17S787) a peak was found with non-parametric-linkage (NPL) score 1.82 for qualitative trait using GENEHUNTER. Conclusions: In the southern population of China, our results demonstrate that a 7-cM interval region flanked by D17S8 31 (7 cM) and D17S938 (15 cM) is suggestively linked with hypertension.
文摘To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin related male infertility. Association study of male infertility with polymorphisms. National research institute and university hospitals. 123 Japanese men with azoospermia or severe oligozoospermia and 112 men with proven fertility. Polymorphism analysis. The allele and genotype frequencies between infertile men and controls. The allele and genotype frequencies of the AHR polymorphism were comparable between infertile men and controls. By contrast, although the difference in the allele frequency of the AHRR polymorphism did not reach a significant level, the genotype frequency was statistically significantly different between the two groups of men. Furthermore, the statistical difference became more significant when the frequency was compared between the Pro/Pro genotype and the Pro/Ala plus Ala/Ala genotype. The Pro185Ala polymorphism in AHRR may constitute a susceptibility locus for dioxin related male infertility. It appears that the negative feedback effect of AHRR on dioxin related signaling is weaker for the proline allele than for the alanine allele, and that the hypomorphic function of the proline allele exerts a recessive adverse effect on male fertility.
