Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations.

Abstract:

:Large-scale genotyping and next-generation sequencing techniques have allowed great advances in the field of molecular genetics. Numerous common variants of low impact have been associated with many complex human traits and diseases, such as bipolar disorder and schizophrenia. Although they may exert a greater impact on risk, few rare disease variants have been found, owing to the greatly increased sample sizes that are typically necessary to demonstrate association with rarer variants. One alternative strategy is to study isolated populations, where historical bottlenecks reduce genetic diversity and some otherwise rare variants may drift to higher frequencies. Here we describe the Mennonite population settlements, considering their history of multiple bottlenecks followed by demographic expansion and a currently widespread geographical distribution. We argue that Mennonite populations are valuable partners for studies seeking genetic variants that exert a high impact on risk for a variety of common disorders, including mental illnesses.

journal_name

Hum Biol

journal_title

Human biology

authors

Lopes FL,Hou L,Boldt AB,Kassem L,Alves VM,Nardi AE,McMahon FJ

doi

10.13110/humanbiology.88.2.0109

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

109-120

issue

2

eissn

0018-7143

issn

1534-6617

pii

10.13110/humanbiology.88.2.0109

journal_volume

88

pub_type

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