The range of LD in datasets using the CubeX tool to calculate r2 and D'

<p><b>Copyright information:</b></p><p>Taken from "Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'"</p><p>http://www.biomedcentral.com/1471-2105/8/428</p><p>BMC Bioinformatics 2007;8():428-428.</p><p>Published online 2 Nov 2007</p><p>PMCID:PMC2180187.</p><p></p> (A) Simulated data. D' on x-axis, ron y axis. (B) Real SNP data (Chr. 17:60 to 60.5 MB, 121 SNPs) from the HapMap project [23,24]. D' on x-axis, ron y axis

Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'-4

<p><b>Copyright information:</b></p><p>Taken from "Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'"</p><p>http://www.biomedcentral.com/1471-2105/8/428</p><p>BMC Bioinformatics 2007;8():428-428.</p><p>Published online 2 Nov 2007</p><p>PMCID:PMC2180187.</p><p></p>als. x-axis: allele frequency of SNP1, y-axis: allele frequency of SNP2. Black = more than one solution. Grey = one solution

Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'-2

<p><b>Copyright information:</b></p><p>Taken from "Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'"</p><p>http://www.biomedcentral.com/1471-2105/8/428</p><p>BMC Bioinformatics 2007;8():428-428.</p><p>Published online 2 Nov 2007</p><p>PMCID:PMC2180187.</p><p></p>plotype frequencies (for the two solutions) displayed for comparison (lower table)

Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'-0

<p><b>Copyright information:</b></p><p>Taken from "Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'"</p><p>http://www.biomedcentral.com/1471-2105/8/428</p><p>BMC Bioinformatics 2007;8():428-428.</p><p>Published online 2 Nov 2007</p><p>PMCID:PMC2180187.</p><p></p>als. x-axis: allele frequency of SNP1, y-axis: allele frequency of SNP2. Black = more than one solution. Grey = one solution

Mitochondrial DNA Haplogroups and Breast Cancer Risk Factors in the Avon Longitudinal Study of Parents and Children (ALSPAC)

The relationship between mitochondrial DNA (mtDNA) and breast cancer has been frequently examined, particularly in European populations. However, studies reporting associations between mtDNA haplogroups and breast cancer risk have had a few shortcomings including small sample sizes, failure to account for population stratification and performing inadequate statistical tests. In this study we investigated the association of mtDNA haplogroups of European origin with several breast cancer risk factors in mothers and children of the Avon Longitudinal Study of Parents and Children (ALSPAC), a birth cohort that enrolled over 14,000 pregnant women in the Southwest region of the UK. Risk factor data were obtained from questionnaires, clinic visits and blood measurements. Information on over 40 independent breast cancer risk factor-related variables was available for up to 7781 mothers and children with mtDNA haplogroup data in ALSPAC. Linear and logistic regression models adjusted for age, sex and population stratification principal components were evaluated. After correction for multiple testing we found no evidence of association of European mtDNA haplogroups with any of the breast cancer risk factors analysed. Mitochondrial DNA haplogroups are unlikely to underlie susceptibility to breast cancer that occurs via the risk factors examined in this study of a population of European ancestry

Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits

Many psychiatric traits are sexually dimorphic in terms of prevalence, age of onset, progression and prognosis; sex chromosomes could play a role in these differences. In this study we evaluated the association between Y chromosome and mitochondrial DNA haplogroups with sexually-dimorphic behavioural and psychiatric traits. The study sample included 4,211 males and 4,009 females with mitochondrial DNA haplogroups and 4,788 males with Y chromosome haplogroups who are part of the Avon Longitudinal Study of Parents and Children (ALSPAC) based in the United Kingdom. Different subsets of these populations were assessed using measures of behavioural and psychiatric traits with logistic regression being used to measure the association between haplogroups and the traits. The majority of behavioural traits in our cohort differed between males and females; however Y chromosome and mitochondrial DNA haplogroups were not associated with any of the variables. These findings suggest that if there is common variation on the Y chromosome and mitochondrial DNA associated with behavioural and psychiatric trait variation, it has a small effect

Mean trajectories of SBP, DBP and pulse in females and males, by haplogroup.

99% confidence intervals for all haplogroups are displayed in grey. Detailed results with confidence intervals are provided in S15 Table in S1 File. SBP, systolic blood pressure; DBP, diastolic blood pressure.</p

Mean trajectories of HDL-c, Non-HDL-c and log triglycerides in females and males, by haplogroup.

99% confidence intervals for all haplogroups are displayed in grey. Detailed results with confidence intervals are provided in S16 & S17 Tables in S1 File. Note the different age range on the X axis for each outcome. HDL-c, high density lipoprotein cholesterol.</p

S1 File -

BackgroundMitochondria are organelles responsible for converting glucose into energy. Mitochondrial DNA is exclusively maternally inherited. The role of mitochondrial DNA haplogroups in the aetiology of cardiometabolic disease risk is not well understood.MethodsSex-specific associations between common European mitochondrial DNA haplogroups (H, U, J, T, K, V, W, I and X) and trajectories of cardiometabolic risk factors from birth to 18 years were examined in a prospective cohort. Cardiometabolic risk factors measured from birth/mid-childhood to 18 years included body mass index (BMI), fat and lean mass, systolic and diastolic blood pressure, pulse rate, high-density lipoprotein cholesterol (HDL-c), non-HDL-c and triglycerides. Fractional polynomial and linear spline multilevel models explored the sex-specific association between haplogroups and risk factor trajectories.ResultsAmong a total of 7,954 participants with 79,178 repeated measures per outcome, we found no evidence that haplogroups U, T, J, K and W were associated with cardiometabolic risk factors compared to haplogroup H. In females, haplogroup V was associated with 4.0% (99% CI: -7.5, -0.6) lower BMI at age one but associations did not persist at age 18. Haplogroup X was associated with 1.3kg (99% CI: -2.5, -0.2) lower lean mass at age 9 which persisted at 18. Haplogroup V and X were associated with 9.3% (99% CI: -0.4, 19.0) and 16.4% (99% CI: -0.5,33.3) lower fat mass at age 9, respectively, although confidence intervals spanned the null and associations did not persist at 18. In males, haplogroup I was associated with 2.4% (99% CI: -0.5, 5.3) higher BMI at age 7; widening to 5.1% (99% CI: -0.5, 10.6) at 18 with confidence intervals spanning the null.ConclusionsOur study demonstrated little evidence of sex-specific associations between mitochondrial DNA haplogroups and cardiometabolic risk factors.</div

Effect of carrier (1) (<i>FLG</i> R501X or <i>FLG</i> 2282del4) versus non-carrier (0) status on 30 hearing variables as tested by one-way ANOVA tests.

<p>Effect of carrier (1) (<i>FLG</i> R501X or <i>FLG</i> 2282del4) versus non-carrier (0) status on 30 hearing variables as tested by one-way ANOVA tests.</p