Diabetes

Question 0

Genotype

Answer 0

The genetic constitution of an individual, as distinguished from the phenotype. More specifically, the alleles present at one locus

Question 1

Allele

Answer 1

One of the alternative versions of a gene or DNA sequence at a given locus

Question 2

Genome wide association study

Answer 2

A case-control study in which genetic variation, often measured as SNP genotypes, is compared between people with a particular trait and unaffected individuals

Question 3

Locus

Answer 3

The position occupied by a given gene on a chromosome. Different forms of the gene (alleles) may occupy locus

Question 4

Type I diabetes

Answer 4

Multifactorial disorder causing autoimmunity. Patients usually inherit risk factor from both parents. Majority of the genetic basis of the disease is known. Loci with known functions are involved in regulating the immune system

Question 5

Type II diabetes

Answer 5

Majority of the genetic basis of disease is unknown. Overall variance in T2D susceptibility can be attributed to the impact of a large number of common casual variants, most of very modest effect. Obesity is a major risk factor.

Question 6

Monogenic diabetes

Answer 6

Autosomal dominant inheritance with high penetrance. Any of 12 genes can be mutated in individuals with MODY. Genetic testing is required to make a diagnosis.