NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles-2

HWE, for a 2 locus polymorphism: A with variants , , and B with variants , . The graph shows the error of haplotype frequency estimation in function of assumed frequency of this haplotype.<p><b>Copyright information:</b></p><p>Taken from "NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles"</p><p>http://www.biomedcentral.com/1471-2105/9/330</p><p>BMC Bioinformatics 2008;9():330-330.</p><p>Published online 5 Aug 2008</p><p>PMCID:PMC2526998.</p><p></p

NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles-1

two polymorphisms characterized in Table 2 (example 5 – red line, example 6 – blue line).<p><b>Copyright information:</b></p><p>Taken from "NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles"</p><p>http://www.biomedcentral.com/1471-2105/9/330</p><p>BMC Bioinformatics 2008;9():330-330.</p><p>Published online 5 Aug 2008</p><p>PMCID:PMC2526998.</p><p></p

NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles-4

two polymorphisms characterized in Table 2 (example 5 – red line, example 6 – blue line).<p><b>Copyright information:</b></p><p>Taken from "NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles"</p><p>http://www.biomedcentral.com/1471-2105/9/330</p><p>BMC Bioinformatics 2008;9():330-330.</p><p>Published online 5 Aug 2008</p><p>PMCID:PMC2526998.</p><p></p

NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles-3

Ls were generated from population in HWE. The error in function of sample size is shown. The haplotype distribution is given in example 5 (red) and example 6 (blue) in Table 2, respectively.<p><b>Copyright information:</b></p><p>Taken from "NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles"</p><p>http://www.biomedcentral.com/1471-2105/9/330</p><p>BMC Bioinformatics 2008;9():330-330.</p><p>Published online 5 Aug 2008</p><p>PMCID:PMC2526998.</p><p></p

NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles-5

HWE, for a 2 locus polymorphism: A with variants , , and B with variants , . The graph shows the error of haplotype frequency estimation in function of assumed frequency of this haplotype.<p><b>Copyright information:</b></p><p>Taken from "NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles"</p><p>http://www.biomedcentral.com/1471-2105/9/330</p><p>BMC Bioinformatics 2008;9():330-330.</p><p>Published online 5 Aug 2008</p><p>PMCID:PMC2526998.</p><p></p

Genetic Polymorphism of Human Y Chromosome and Risk Factors for Cardiovascular Diseases: A Study in WOBASZ Cohort

<div><p>Genetic variants of Y chromosome predispose to hypertension in rodents, whereas in humans the evidence is conflicting. Our purpose was to study the distribution of a panel of Y chromosome markers in a cohort from a cross-sectional population-based study on the prevalence of cardiovascular risk factors in Poland (WOBASZ study). The HindIII, YAP Y chromosome variants, previously shown to influence blood pressure, lipid traits or height, as well as SNPs defining main Y chromosome haplogroups, were typed in 3026, 2783 and 2652 samples, respectively. In addition, 4 subgroups (N∼100 each) representing extremes of LDL concentration or blood pressure (BP) were typed for a panel of 17 STRs. The HindIII and YAP polymorphism were not associated with any of the studied traits. Analysis of the haplogroup distribution showed an association between higher HDL level and hg I-M170 (P = 0.02), higher LDL level and hg F*(xI-M170, J2-M172, K-M9) (P = 0.03) and lower BMI and hg N3-Tat (P = 0.04). Analysis of STRs did not show statistically significant differences. Since all these associations lost statistical significance after Bonferroni correction, we conclude that a major role of Y chromosome genetic variation (defined by HindIII, YAP or main Y chromosome haplogroups) in determining cardiovascular risk in Poles is unlikely.</p></div

Distribution of studied parameters according to Y chromosome HindIII and YAP markers.

<p>Distribution of studied parameters according to Y chromosome HindIII and YAP markers.</p

Distribution of studied parameters according to Y chromosome haplogroup (only haplogroups with n>10 were analyzed).

<p>TC –total cholesterol, M – Mean, SD standard deviation, P - p value (t-test vs. all other haplogroups), BP blood pressure, TG-triglycerides</p

Heteroplasmy level of the m.3243A>G mutation in examined tissues.

<p>Above: the scores of patients with multi-symptomatic presentation (subgroup I). Below: the scores of patients with isolated hearing loss and asymptomatic carriers (subgroups II and III together).</p

Characteristic features on ophthalmological evaluation in the proband from family A.

<p>Fundus examination showed bilateral temporal pallor of the optic disc. PVEP presented a reduced amplitude and delayed latency of P100 wave. Components of PVEP, N75, P100 and N135, indicate polarity (negative or positive) and absolute latencies (msec) of the peaks waveforms. Right panel—left eye, left panel—right eye.</p