Identification of two maternal transmission ratio distortion loci in pedigrees of the framingham heart study

Yang Liu; Liangliang Zhang; Shuhua Xu; Landian Hu; Laurence D. Hurst; Xiangyin Kong

doi:10.1038/srep02147

Identification of two maternal transmission ratio distortion loci in pedigrees of the framingham heart study

Yang Liu, Liangliang Zhang, Shuhua Xu, Landian Hu, Laurence D. Hurst, Xiangyin Kong

Research output: Contribution to journal › Article › peer-review

6 Citations (SciVal)

Abstract

Transmission ratio distortion (TRD) is indicated by the recovery of alleles in offspring in non-Mendelian proportions. An assumption of Mendelian proportion is central to many methods to identify disease-associated markers. This seems reasonable as, while TRD cases have been occasionally observed in various species few instances have been identified in humans. Here we search for evidence of paternal or maternal TRD with genome-wide SNP data of pedigrees from the Framingham Heart Study. After excluding many examples as better explained by genotyping errors we identified two maternal-specific TRD loci for autosomal SNPs rs6733122 and rs926716 (corrected P = 0.029 and P = 0.018) on LRP2 and ZNF133, respectively. The transmission ratios were as high as 1.7~1.8:1. Genotyping validation and further replication is still necessary to confirm the TRD. This study shows that there may be large-effect maternal-specific TRD loci of common SNPs in the human genome but that these are rare.

Original language	English
Article number	2147
Journal	Scientific Reports
Volume	3
DOIs	https://doi.org/10.1038/srep02147
Publication status	Published - 5 Jul 2013

Bibliographical note

Funding Information:
We acknowledge the Genetic Analysis Workshop, the Framingham Heart Study, the National Institute of Health, and their investigators who contributed to the data analyzed in this study. We also greatly thank the anonymous referees for their valuable comments and suggestions which help improve the quality of the paper. This work is supported by the National Basic Research Program of China (No. 2011CB510100), the National Natural Science Foundation of China (No. 81030015), and the E-Institutes of Shanghai Municipal Education Commission.

Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.

ASJC Scopus subject areas

General

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/srep02147Licence: CC BY

Cite this

@article{2b940076efde4706a0ce279e955ef931,

title = "Identification of two maternal transmission ratio distortion loci in pedigrees of the framingham heart study",

abstract = "Transmission ratio distortion (TRD) is indicated by the recovery of alleles in offspring in non-Mendelian proportions. An assumption of Mendelian proportion is central to many methods to identify disease-associated markers. This seems reasonable as, while TRD cases have been occasionally observed in various species few instances have been identified in humans. Here we search for evidence of paternal or maternal TRD with genome-wide SNP data of pedigrees from the Framingham Heart Study. After excluding many examples as better explained by genotyping errors we identified two maternal-specific TRD loci for autosomal SNPs rs6733122 and rs926716 (corrected P = 0.029 and P = 0.018) on LRP2 and ZNF133, respectively. The transmission ratios were as high as 1.7~1.8:1. Genotyping validation and further replication is still necessary to confirm the TRD. This study shows that there may be large-effect maternal-specific TRD loci of common SNPs in the human genome but that these are rare.",

author = "Yang Liu and Liangliang Zhang and Shuhua Xu and Landian Hu and Hurst, {Laurence D.} and Xiangyin Kong",

note = "Funding Information: We acknowledge the Genetic Analysis Workshop, the Framingham Heart Study, the National Institute of Health, and their investigators who contributed to the data analyzed in this study. We also greatly thank the anonymous referees for their valuable comments and suggestions which help improve the quality of the paper. This work is supported by the National Basic Research Program of China (No. 2011CB510100), the National Natural Science Foundation of China (No. 81030015), and the E-Institutes of Shanghai Municipal Education Commission. Copyright: Copyright 2013 Elsevier B.V., All rights reserved.",

year = "2013",

month = jul,

day = "5",

doi = "10.1038/srep02147",

language = "English",

volume = "3",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "Nature Research",

}

TY - JOUR

T1 - Identification of two maternal transmission ratio distortion loci in pedigrees of the framingham heart study

AU - Liu, Yang

AU - Zhang, Liangliang

AU - Xu, Shuhua

AU - Hu, Landian

AU - Hurst, Laurence D.

AU - Kong, Xiangyin

N1 - Funding Information: We acknowledge the Genetic Analysis Workshop, the Framingham Heart Study, the National Institute of Health, and their investigators who contributed to the data analyzed in this study. We also greatly thank the anonymous referees for their valuable comments and suggestions which help improve the quality of the paper. This work is supported by the National Basic Research Program of China (No. 2011CB510100), the National Natural Science Foundation of China (No. 81030015), and the E-Institutes of Shanghai Municipal Education Commission. Copyright: Copyright 2013 Elsevier B.V., All rights reserved.

PY - 2013/7/5

Y1 - 2013/7/5

N2 - Transmission ratio distortion (TRD) is indicated by the recovery of alleles in offspring in non-Mendelian proportions. An assumption of Mendelian proportion is central to many methods to identify disease-associated markers. This seems reasonable as, while TRD cases have been occasionally observed in various species few instances have been identified in humans. Here we search for evidence of paternal or maternal TRD with genome-wide SNP data of pedigrees from the Framingham Heart Study. After excluding many examples as better explained by genotyping errors we identified two maternal-specific TRD loci for autosomal SNPs rs6733122 and rs926716 (corrected P = 0.029 and P = 0.018) on LRP2 and ZNF133, respectively. The transmission ratios were as high as 1.7~1.8:1. Genotyping validation and further replication is still necessary to confirm the TRD. This study shows that there may be large-effect maternal-specific TRD loci of common SNPs in the human genome but that these are rare.

AB - Transmission ratio distortion (TRD) is indicated by the recovery of alleles in offspring in non-Mendelian proportions. An assumption of Mendelian proportion is central to many methods to identify disease-associated markers. This seems reasonable as, while TRD cases have been occasionally observed in various species few instances have been identified in humans. Here we search for evidence of paternal or maternal TRD with genome-wide SNP data of pedigrees from the Framingham Heart Study. After excluding many examples as better explained by genotyping errors we identified two maternal-specific TRD loci for autosomal SNPs rs6733122 and rs926716 (corrected P = 0.029 and P = 0.018) on LRP2 and ZNF133, respectively. The transmission ratios were as high as 1.7~1.8:1. Genotyping validation and further replication is still necessary to confirm the TRD. This study shows that there may be large-effect maternal-specific TRD loci of common SNPs in the human genome but that these are rare.

UR - http://www.scopus.com/inward/record.url?scp=84881364605&partnerID=8YFLogxK

U2 - 10.1038/srep02147

DO - 10.1038/srep02147

M3 - Article

C2 - 23828458

AN - SCOPUS:84881364605

SN - 2045-2322

VL - 3

JO - Scientific Reports

JF - Scientific Reports

M1 - 2147

ER -

Identification of two maternal transmission ratio distortion loci in pedigrees of the framingham heart study

Abstract

Bibliographical note

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this