Evidence map›Paper›PMID 34215184›Full record

ArticleBMC genomic data2021

A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data.

Bao-Hui Li, Wen-Yi Yu, Ji-Yuan Zhou

Abstract read
In one paragraph

Article in BMC genomic data, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Bao-Hui Li *Department of Biostatistics, State Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, Guangdong, China.
Wen-Yi Yu *Department of Biostatistics, State Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, Guangdong, China.
Ji-Yuan ZhouDepartment of Biostatistics, State Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, Guangdong, China. zhoujiyuan5460@hotmail.com.ORCID 0000-0003-0866-4402

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
TWIN STUDY OF FEMALE ALCOHOLISMS AND OTHER DISORDERSR01AA009367 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1992 to 2013
$9.0M
Twin Family Study of Vulnerability to Substance AbuseR37DA005147 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2009 to 2018
$6.4M
A Longitudinal Study of Adopted Youth and Their FamiliesR01MH066140 · NIMH · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 2003 to 2013
$5.8M
TWIN STUDY OF ADHD, CD, AND SUBSTANCE ABUSER01DA013240 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G. · 2000 to 2010
$5.0M
SIBLING MODELS OF ADOLESCENT ALCOHOL USE AND ABUSER01AA011886 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1998 to 2008
$2.5M
National Natural Science Foundation of China (CN) 81773544NIAAA NIH HHS R01 AA009367NIAAA NIH HHS R01 AA011886NIAAA NIH HHS R01 AA09367NIAAA NIH HHS R01 AA11886NIDA NIH HHS R01 DA013240NIDA NIH HHS R01 DA13240NIDA NIH HHS R37 DA005147NIDA NIH HHS R37 DA05147NIDA NIH HHS U01 DA024417NIMH NIH HHS R01 MH066140NIMH NIH HHS R01 MH66140
6 · The paper itself

Abstract

backgroundX chromosome inactivation (XCI) is that one of two chromosomes in mammalian females is silenced during early development of embryos. There has been a statistical measure for the degree of the skewness of XCI for qualitative traits. However, no method is available for such task at quantitative trait loci.

resultsIn this article, we extend the existing statistical measure for the skewness of XCI for qualitative traits, and the likelihood ratio, Fieller's and delta methods for constructing the corresponding confidence intervals, and make them accommodate quantitative traits. The proposed measure is a ratio of two linear regression coefficients when association exists. Noting that XCI may cause variance heterogeneity of the traits across different genotypes in females, we obtain the point estimate and confidence intervals of the measure by incorporating such information. The hypothesis testing of the proposed methods is also investigated. We conduct extensive simulation studies to assess the performance of the proposed methods. Simulation results demonstrate that the median of the point estimates of the measure is very close to the pre-specified true value. The likelihood ratio and Fieller's methods control the size well, and have the similar test power and accurate coverage probability, which perform better than the delta method. So far, we are not aware of any association study for the X-chromosomal loci in the Minnesota Center for Twin and Family Research data. So, we apply our proposed methods to these data for their practical use and find that only the rs792959 locus, which is simultaneously associated with the illicit drug composite score and behavioral disinhibition composite score, may undergo XCI skewing. However, this needs to be confirmed by molecular genetics.

conclusionsWe recommend the Fieller's method in practical use because it is a non-iterative procedure and has the similar performance to the likelihood ratio method.

Indexed as

Chromosomes, Human, XX Chromosome InactivationAnimalsFemaleGenotypeHumansPhenotypeQuantitative Trait LociMinnesota Center for Twin and Family Research dataQuantitative traitSkewnessVariance heterogeneityX chromosome inactivation

Identifiers

PMID34215184
PMCPMC8254321

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.