Twin Studies and Concordance

Insight into such questions can be gleaned by several types of studies that compare twins. Comparison of MZ twins reared apart is one type of study but is hampered by the extreme rarity of such twin pairs. Another type of study, comparing MZ twins to DZ twins, is more commonly done, because there are many hundreds of thousands of such twin pairs worldwide. Data on twins have been collected by numerous research groups who have created large and growing databases (registries) that can be mined for information.

Determining a characteristic called concordance plays a crucial role in most such studies. A twin pair is said to be concordant for a trait if both members show it. If neither twin shows the trait, the pair is also concordant, but for the absence of the trait. For instance, twins are concordant for Alzheimer's disease if both develop it. They are discordant if one does have the disease but the other does not.

If a trait is strongly influenced by genes, more MZ twin pairs should be concordant than DZ twin pairs, because MZ twins share more genes. Comparing concordance rates between the two groups, and applying some mathematical analysis, allows researchers to estimate the genetic contribution to a trait, as shown in Table 1.

PAIRWISE

CONCORDANCE

FOR

PARKINSON'S

DISEASE

Concordant Pairs

Discordant Pairs

Pairwise Concordance

Risk of Concordance if MZ

MZ

DZ

MZ

DZ

MZ

DZ

RR (95% CI)

Overall

11

10

60

80

15.5%

11.1%

1.39 (0.63-3.10)

First twin diagnosed < 50

4

2

0

10

100.0%

16.7%%

6.00 (1.69-21.3)

First twin diagnosed > 50

7

8

58

68

10.8%%

10.5%%

1.02 (0.39-2.67)

OOOGCO

Table 2. The data in the last column indicate the relative risk (RR) and 95 percent confidence interval (CI) for concordance of Parkinson's disease in MZ twins. The risk to the second twin is much higher if the first is diagnosed before age fifty, indicating a strong genetic component in early-onset PD.

0 0

Post a comment