Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36

Human Genetics
Robert WojciechowskiDwight Stambolian

Abstract

The development of refractive error is mediated by both environmental and genetic factors. We performed regression-based quantitative trait locus (QTL) linkage analysis on Ashkenazi Jewish families to identify regions in the genome responsible for ocular refraction. We measured refractive error on individuals in 49 multi-generational American families of Ashkenazi Jewish descent. The average family size was 11.1 individuals and was composed of 2.7 generations. Recruitment criteria specified that each family contain at least two myopic members. The mean spherical equivalent refractive error in the sample was -3.46D (SD=3.29) and 87% of individuals were myopic. Microsatellite genotyping with 387 markers was performed on 411 individuals. We performed multipoint regression-based linkage analysis for ocular refraction and a log transformation of the trait using the statistical package Merlin-Regress. Empirical genomewide significance levels were estimated through gene-dropping simulations by generating random genotypes at each of the 387 markers in 200 replicates of our pedigrees. Maximum LOD scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction (LTR) were observed at 49.1 cM on chromosome 1p36 between markers D...Continue Reading

References

Jun 1, 1992·Scandinavian Journal of Social Medicine·J M TeikariJ O'Donnell
Jan 1, 1992·Retina·L PierroR Brancato
Jan 1, 1991·Human Heredity·J M TeikariM Koskenvuo
Feb 1, 1990·Archives of Ophthalmology·J M TielschR M Royall
Apr 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·E S Lander, P Green
Aug 1, 1996·Ophthalmology·S Y CohenG J Coscas
Aug 1, 1997·American Journal of Human Genetics·M Boehnke, N J Cox
Oct 30, 1998·American Journal of Human Genetics·T L YoungR A King
Oct 30, 1998·American Journal of Human Genetics·K W Broman, J L Weber
Jan 26, 1999·Ophthalmology·R D StultingJ G Walker
Jun 12, 1999·Ophthalmology·K AtteboP Mitchell
Jun 22, 1999·Optometry and Vision Science : Official Publication of the American Academy of Optometry·L L LinP K Hou
Nov 5, 1999·Survey of Ophthalmology·H Matsumura, H Hirai
Apr 18, 2000·Human Molecular Genetics·S Wawersik, R L Maas
Dec 4, 2001·Nature Genetics·Gonçalo R AbecasisLon R Cardon
Feb 12, 2002·Journal of Medical Genetics·L NaiglinP Calvas
Apr 3, 2002·Ophthalmology·Jerry VongphanitJie Jin Wang
Jul 3, 2002·Ophthalmology·M Cristina LeskeUNKNOWN Barbados Eye Studies Group
Jul 12, 2002·American Journal of Human Genetics·Pak C ShamGonçalo R Abecasis
Apr 26, 2003·Investigative Ophthalmology & Visual Science·Prasuna PaluruTerri L Young
Oct 16, 2003·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Seang-Mei Saw
Feb 27, 2004·Investigative Ophthalmology & Visual Science·Mingguang HeLeon B Ellwein
Mar 24, 2004·Investigative Ophthalmology & Visual Science·Dorothy S P FanSek-Jin Chew
Jun 10, 2004·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Guy J Ben-SimonAbraham Spierer
Jun 16, 2004·Archives of Ophthalmology·Terri L YoungRichard A King
Aug 25, 2004·Investigative Ophthalmology & Visual Science·Jane E FarbrotherJeremy A Guggenheim
Aug 9, 2005·American Journal of Ophthalmology·Dwight StambolianJoan E Bailey-Wilson

❮ Previous
Next ❯

Citations

Jun 9, 2007·Human Genetics·Yumiko InamoriNobuhisa Mizuki
Jul 10, 2009·Current Opinion in Ophthalmology·Dana M Hornbeak, Terri L Young
Dec 1, 2006·The British Journal of Ophthalmology·Jeremy A GuggenheimSeang Mei Saw
Oct 6, 2011·Molecular Cancer Therapeutics·Venita Gresham WatsonHoward L McLeod
Jun 26, 2010·Progress in Retinal and Eye Research·Paul N BairdMohamed Dirani
Dec 28, 2007·Experimental Eye Research·Sandrine PagetPatrick Calvas
Nov 30, 2007·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Wing Chun TangShea Ping Yip
Dec 16, 2010·Clinical Genetics·R Wojciechowski
Nov 13, 2013·Current Eye Research·Ishfaq AhmedKhurshid I Andrabi
Aug 19, 2007·Ophthalmology·Yossi MandelElisha Bartov
Mar 1, 2019·Investigative Ophthalmology & Visual Science·Milly S TedjaUNKNOWN CREAM Consortium
Nov 14, 2008·Ophthalmic Genetics·Justin C SherwinDavid A Mackey
Sep 25, 2018·PeerJ·Ling WanXiaoming Chen
Apr 8, 2020·Clinical Ophthalmology·Sangeethabalasri PugazhendhiAllan A Hunter
Aug 5, 2016·Asia-Pacific Journal of Ophthalmology·Shi Song RongChi Pui Pang
Mar 13, 2021·Advances in Medical Sciences·Joanna SwierkowskaMarzena Gajecka
Jul 10, 2021·Investigative Ophthalmology & Visual Science·Claire L SimpsonDwight Stambolian

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.