A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.
Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01) by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05) using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Shaohe
S
Zhou
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Zhangyan
Z
Shi
Xi'an Institute of Mental Health, Xi'an, China.
Meng
M
Cui
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Junlin
J
Li
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Zhe
Z
Ma
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Yuanyu
Y
Shi
College of Public Management, Institute of Application Psychology, Northwest University, Xi'an, China.
Zijian
Z
Zheng
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China; College of Public Management, Institute of Application Psychology, Northwest University, Xi'an, China.
Fuchang
F
Zhang
School of Life Sciences, Northwest University, Xi'an, Shaanxi, China; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, China.
Tianbo
T
Jin
School of Life Sciences, Northwest University, Xi'an, Shaanxi, China; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, China.
Tingting
T
Geng
School of Life Sciences, Northwest University, Xi'an, Shaanxi, China; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, China.
Chao
C
Chen
The 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.
Yale
Y
Guo
The 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.
Jianping
J
Zhou
The 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.
Shaoping
S
Huang
School of Computer Science and Technology, Xidian University, Xi'an Shaanxi, China.
Xingli
X
Guo
School of Computer Science and Technology, Xidian University, Xi'an Shaanxi, China.
Lin
L
Gao
Laboratory of Medical Molecular Biology, Henan University of Science and Technology, Luoyang, China.
Pingyuan
P
Gong
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China; College of Public Management, Institute of Application Psychology, Northwest University, Xi'an, China.
Xiaocai
X
Gao
Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
Kejin
K
Zhang
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D005190:Family; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics; D055815:Young Adult
D005819:Genetic Markers; D022661:RNA, Untranslated