Farm Families Alive and Well, March 2012, Vol. 18, no.2

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, Vol. 10, issue 1, 2003

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, Vol. 11, issue 1, 2004

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, October 2010, Vol. 16, no.4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, September 2007, Vol. 13, no.4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, Vol. 10, issue 4, 2004

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, September 2006, Vol. 12, no.4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, September 2009, Vol. 15, no.4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, September 2011, Vol. 17, no.4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, September 2013, Vol. 19, no. 4

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, Vol. 9, issue 4, 2003

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Farm Families Alive and Well, April 2014, Vol. 20, no.2

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Six families with at least one JLNS-affected member attended our clinic between 2011 and 2013. Retrospective and prospective clinical data were collected and genetic investigation was performed. Pathogenic mutations in the KCNQ1 gene were detected in all JLNS patients. The homozygous mutations detected were Leu273Phe, Asp202Asn, Ile567Thr, and c.1486_1487delCT and compound heterozygous mutations were c.820_ 830del and c.1251+1G>T. All living JLNS patients except one had a QTc of >500 ms and a history of recurrent syncope. β-Blockers abolished the cardiac-related events in all patients except two siblings with homozygous Ile567Thr mutation. Four of the six mutations were originally reported in autosomal dominant long QT syndrome (LQTS) patients. Eighty percent of the heterozygote mutation carriers showed prolongation of QTc, but majority of these reported no symptoms attributable to arrhythmias. Mutations detected in this study will be advantageous in tribe and region-specific cascade screening of LQTS in Saudi Arabia.

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide scan in 1,168 individuals from 438 families, including 493 affected sibling pairs with documented onset of CAD before 51 years of age in men and before 56 years of age in women. We prospectively defined three phenotypic subsets of families: (1) acute coronary syndrome in two or more siblings; (2) absence of type 2 diabetes in all affected siblings; and (3) atherogenic dyslipidemia in any one sibling. Genotypes were analyzed for 395 microsatellite markers. Regions were defined as providing evidence for linkage if they provided parametric two-point LOD scores >1.5, together with nonparametric multipoint LOD scores >1.0. Regions on chromosomes 3q13 (multipoint LOD = 3.3; empirical P value <.001) and 5q31 (multipoint LOD = 1.4; empirical P value <.081) met these criteria in the entire data set, and regions on chromosomes 1q25, 3q13, 7p14, and 19p13 met these criteria in one or more of the subsets. Two regions, 3q13 and 1q25, met the criteria for genomewide significance. We have identified a region on chromosome 3q13 that is linked to early-onset CAD, as well as additional regions of interest that will require further analysis. These data provide initial areas of the human genome where further investigation may reveal susceptibility genes for early-onset CAD.

Farm Families Alive and Well, June 2014, Vol. 20, no. 3

News from Iowa’s Center for Agricultural Safety and Health (I-CASH)