Human research

Researchers use our human research. Our customers’ data speaks volumes about the work we do.

Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancy

Dr. Clive J. Petry et al., from the University of Cambridge, used KASP to conduct research presented in this report published in Diabetes, 2011.

The aim of the study was to test the hypothesis that variation in the paternally transmitted fetal IGF2 gene is associated with maternal glucose concentrations in the third trimester of pregnancy.

A total of 17 haplotype tag single nucleotide polymorphisms in the IGF2 gene region were genotyped in 1,160 mother / partner / offspring trios. Results demonstrated that polymorphic variation in IGF2 is indeed associated with increased maternal glucose concentrations in pregnancy, a key risk factor for gestational diabetes.

While associations with maternal genes and the regulation of nutrient availability in pregnancy are documented, the University of Cambridge has reported for the first time an association between polymorphic variation in a paternally transmitted fetal gene and maternal glucose concentrations in pregnancy.

Blood pressure in treated hypertensive individuals with the MTHFR 677TT genotype is responsive to intervention with riboflavin

Dr. Carol Wilson et al. published their report last year in the American Heart Association publication Hypertension.

Intervention with riboflavin was shown to produce lowering of blood pressure in patients with premature cardiovascular disease who were also homozygous for the 677C→T polymorphism in the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR).

The researchers used KASP to genotype all participants in the study and to identify individuals with the MTHFR 677TT genotype.

The results show that riboflavin supplementation targeted at hypertensive individuals with the MTHFR 677TT genotype can decrease blood pressure more effectively than treatment with current antihypertensive drugs only, offering a low-cost targeted strategy for managing elevated blood pressure in this genetically at-risk group.

Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk

This report by Chubb et al., published in Nature Genetics last year reports the results of a multi-centre research study throughout the UK and Germany to identify genetic variants for multiple myeloma risk.

An initial genome-wide association study was conducted on over 15,000 individuals and was followed up by replication studies using KASP genotyping on 6041 individuals to provide genome-wide significant evidence that four of the SNPs studied have an association with multiple myeloma.
These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition.