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GWAS Study

Heterozygosity for a Pathogenic Variant in <i>SLC12A3</i> That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.

Wan X, Perry J, Zhang H et al.

33542107 PubMed ID
GWAS Study Type
5812 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

WX
Wan X
PJ
Perry J
ZH
Zhang H
JF
Jin F
RK
Ryan KA
VH
Van Hout C
RJ
Reid J
OJ
Overton J
BA
Baras A
HZ
Han Z
SE
Streeten E
LY
Li Y
MB
Mitchell BD
SA
Shuldiner AR
FM
Fu M
Chapter II

Abstract

Summary of the research findings

Potassium levels regulate multiple physiologic processes. The heritability of serum potassium level is moderate, with published estimates varying from 17% to 60%, suggesting genetic influences. However, the genetic determinants of potassium levels are not generally known.

5,812 Old Order Amish (founder/genetic isolate) individuals

Chapter III

Study Statistics

Key metrics and study information

5812
Total Participants
GWAS
Study Type
No
Replicated
Other
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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