Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18528436
TITLE
Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.
ABSTRACT
Genetic studies of pigmentation have benefited from spectrophotometric measures of light-dark hair color. Here we use one of those measures, absorbance at 650 nm, to look for chromosomal regions that harbor genes affecting hair pigmentation. At 7p15.1, marker D7S1808 was suggestive of linkage to light-dark hair color (LOD approximately 2.99). Marker D1S235 at 1q42.3 was suggestive of linkage to hair color (light-dark or blonde-black continuum) (LOD approximately 2.14). However, the most consistent linkage peak was over the gene oculocutaneous albinism type II (OCA2) on chromosome 15. Linkage analysis of both spectrophotometrically quantified and ordered ratings of hair color had LOD scores about 1.2, significant because of the almost perfect concordance. A quantitative transmission disequilibrium test between light-dark hair color and 58 single nucleotide polymorphisms in OCA2 showed that the SNPs rs4778138 (also called rs11855019) and rs1375164 were associated with significantly darker hair color (P approximately 3 x 10(-4) and P approximately 0.03 after correction for multiple testing, respectively). These two SNPs explain 1.54 and 0.85% of variation in the A650t index, respectively.
DATE PUBLISHED
2008 Dec
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/06/05
pubmed 2008/06/06 09:00
medline 2008/12/17 09:00
entrez 2008/06/06 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Shekar SN Shekar Sri N SN Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
Duffy DL Duffy David L DL
Frudakis T Frudakis Tony T
Sturm RA Sturm Richard A RA
Zhao ZZ Zhao Zhen Z ZZ
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
INVESTIGATORS
JOURNAL
VOLUME: 128
ISSUE: 12
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2008
MONTH: Dec
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CA88363. NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Australia
Child
Chromosomes, Human, Pair 1 genetics
Chromosomes, Human, Pair 15 genetics
Female genetics
Genetic Linkage genetics
Guanine Nucleotide Exchange Factors genetics
Hair Color genetics
Humans genetics
Linkage Disequilibrium genetics
Male genetics
Membrane Transport Proteins genetics
Pigmentation genetics
Spectrophotometry methods
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Guanine Nucleotide Exchange Factors
0 HERC2 protein, human
0 Membrane Transport Proteins
0 OCA2 protein, human
OTHER ID's