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| PMID |
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| TITLE |
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| A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. |
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| ABSTRACT |
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| We have rated eye color on a 3-point scale (1 = blue/grey, 2 = hazel/green, 3 = brown) in 502 twin families and carried out a 5-10 cM genome scan (400-757 markers). We analyzed eye color as a threshold trait and performed multipoint sib pair linkage analysis using variance components analysis in Mx. A lod of 19.2 was found at the marker D15S1002, less than 1 cM from OCA2, which has been previously implicated in eye color variation. We estimate that 74% of variance in eye color liability is due to this QTL and a further 18% due to polygenic effects. However, a large shoulder on this peak suggests that other loci affecting eye color may be telomeric of OCA2 and inflating the QTL estimate. No other peaks reached genome-wide significance, although lods > 2 were seen on 5p and 14q and lods >1 were additionally seen on chromosomes 2, 3, 6, 7, 8, 9, 17 and 18. Most of these secondary peaks were reduced or eliminated when we repeated the scan as a two locus analysis with the 15q linkage included, although this does not necessarily exclude them as false positives. We also estimated the interaction between the 15q QTL and the other marker locus but there was only minor evidence for additive x additive epistasis. Elaborating the analysis to the full two-locus model including non-additive main effects and interactions did not strengthen the evidence for epistasis. We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2004/06/01 05:00 |
| medline |
2004/07/28 05:00 |
| entrez |
2004/06/01 05:00 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Zhu G |
|
Zhu |
Gu |
G |
|
Queensland Institute of Medical Research, Brisbane, Australia. |
| Evans DM |
|
Evans |
David M |
DM |
|
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| Duffy DL |
|
Duffy |
David L |
DL |
|
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| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
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| Medland SE |
|
Medland |
Sarah E |
SE |
|
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| Gillespie NA |
|
Gillespie |
Nathan A |
NA |
|
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| Ewen KR |
|
Ewen |
Kelly R |
KR |
|
|
| Jewell M |
|
Jewell |
Mary |
M |
|
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| Liew YW |
|
Liew |
Yew Wah |
YW |
|
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| Hayward NK |
|
Hayward |
Nicholas K |
NK |
|
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| Sturm RA |
|
Sturm |
Richard A |
RA |
|
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| Trent JM |
|
Trent |
Jeffrey M |
JM |
|
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| Martin NG |
|
Martin |
Nicholas G |
NG |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 7 |
| ISSUE: 2 |
| TITLE: Twin research : the official journal of the International Society for Twin Studies |
| ISOABBREVIATION: Twin Res |
| YEAR: 2004 |
| MONTH: Apr |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 1369-0523 |
| ISSNTYPE: Print |
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| MEDLINE JOURNAL |
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| MEDLINETA: Twin Res |
| COUNTRY: Australia |
| ISSNLINKING: 1369-0523 |
| NLMUNIQUEID: 9815819 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, Non-U.S. Gov't |
| Research Support, U.S. Gov't, P.H.S. |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GRANTID |
AGENCY |
COUNTRY |
| CA88363 |
NCI NIH HHS |
United States |
| N01-HG-65403 |
NHGRI NIH HHS |
United States |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Chromosomes, Human, Pair 15 |
genetics |
| Eye Color |
genetics |
| Female |
genetics |
| Genetic Linkage |
genetics |
| Genetic Variation |
genetics |
| Humans |
genetics |
| Male |
genetics |
| Quantitative Trait Loci |
genetics |
| Twins |
genetics |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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| OTHER ID's |
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