PMID- 24058921
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20211021
IS  - 2324-9269 (Print)
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 1
IP  - 3
DP  - 2013 Sep 1
TI  - Quantitative trait locus linkage analysis in a large Amish pedigree identifies 
      novel candidate loci for erythrocyte traits.
PG  - 131-141
AB  - We characterized a large Amish pedigree and, in 384 pedigree members, analyzed 
      the genetic variance components with covariate screen as well as genome-wide 
      quantitative trait locus (QTL) linkage analysis of red blood cell count (RBC), 
      hemoglobin (HB), hematocrit (HCT), mean corpuscular volume (MCV), mean 
      corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), 
      red cell distribution width (RDW), platelet count (PLT), and white blood cell 
      count (WBC) using SOLAR. Age and gender were found to be significant covariates 
      in many CBC traits. We obtained significant heritability estimates for RBC, MCV, 
      MCH, MCHC, RDW, PLT, and WBC. We report four candidate loci with LOD scores above 
      2.0: 6q25 (MCH), 9q33 (WBC), 10p12 (RDW), and 20q13 (MCV). We also report eleven 
      candidate loci with LOD scores between 1.5 and < 2.0. Bivariate linkage analysis 
      of MCV and MCH on chromosome 20 resulted in a higher maximum LOD score of 3.14. 
      Linkage signals on chromosomes 4q28, 6p22, 6q25, and 20q13 are concomitant with 
      previously reported QTL. All other linkage signals reported herein represent 
      novel evidence of candidate QTL. Interestingly rs1800562, the most common causal 
      variant of hereditary hemochromatosis in HFE (6p22) was associated with MCH and 
      MCHC in this family. Linkage studies like the one presented here will allow 
      investigators to focus the search for rare variants amidst the noise encountered 
      in the large amounts of data generated by whole genome sequencing.
FAU - Hinckley, Jesse D
AU  - Hinckley JD
AD  - Department of Pediatrics and Human Medical Genetics and Genomics Program, 
      University of Colorado Anschutz Medical Campus, Aurora, CO.
FAU - Abbott, Diana
AU  - Abbott D
FAU - Burns, Trudy L
AU  - Burns TL
FAU - Heiman, Meadow
AU  - Heiman M
FAU - Shapiro, Amy D
AU  - Shapiro AD
FAU - Wang, Kai
AU  - Wang K
FAU - Di Paola, Jorge
AU  - Di Paola J
LA  - eng
GR  - P30 ES005605/ES/NIEHS NIH HHS/United States
GR  - R01 HL084086/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
PMC - PMC3775389
MID - NIHMS478075
EDAT- 2013/09/24 06:00
MHDA- 2013/09/24 06:01
PMCR- 2013/09/01
CRDT- 2013/09/24 06:00
PHST- 2013/09/24 06:00 [entrez]
PHST- 2013/09/24 06:00 [pubmed]
PHST- 2013/09/24 06:01 [medline]
PHST- 2013/09/01 00:00 [pmc-release]
AID - 10.1002/mgg3.16 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2013 Sep 1;1(3):131-141. doi: 10.1002/mgg3.16.