Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population

Im, Sangjun; Kim, Hyun Jin; Lee, Mi Kyeong; Yi, Jae Hyuk; Jargal, Ganchimeg; Sung, Joohon; Cho, Sung-Il; Kim, Jong‐Il

doi:10.3858/emm.2010.42.12.080

Cited by 6 publications

(4 citation statements)

References 33 publications

(32 reference statements)

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“…The other paper targeting orbital traits of Brazilians reported that the heritabilities of intercanthal width, biocular width, and length of the eye fissure were 0.39, 0.34, and 0.51 [30]. Recently, we reported the heritabilities and suggestive genetic loci associated with ocular and nasal traits in an isolated Mongolian population [31]. The heritabilities in Mongolians ( h 2 = 0.48-0.90) were slightly higher than those of Koreans ( h 2 = 0.25-0.61).…”

Section: Discussionmentioning

confidence: 99%

Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

Kim

Jargal³

et al. 2013

Genomics Inform

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Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest (h2 = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.

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Section: Discussionmentioning

confidence: 99%

Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

Kim

Jargal³

et al. 2013

Genomics Inform

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“…In 2006, a total of 2008 volunteers were recruited in Dashbalbar, Dornod Province, Mongolia for the GENDISCAN project, [25][26][27][28] which was designed to discover the genetic backgrounds of several complex traits (figure 1). For this project, we selected an isolated population composed of large extended families.…”

Section: Study Subjects and Phenotype Measurementmentioning

confidence: 99%

Comprehensive genomic analyses associateUGT8variants with musical ability in a Mongolian population

et al. 2012

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BackgroundMusical abilities such as recognising music and singing performance serve as means for communication and are instruments in sexual selection. Specific regions of the brain have been found to be activated by musical stimuli, but these have rarely been extended to the discovery of genes and molecules associated with musical ability.MethodsA total of 1008 individuals from 73 families were enrolled and a pitch-production accuracy test was applied to determine musical ability. To identify genetic loci and variants that contribute to musical ability, we conducted family-based linkage and association analyses, and incorporated the results with data from exome sequencing and array comparative genomic hybridisation analyses.ResultsWe found significant evidence of linkage at 4q23 with the nearest marker D4S2986 (LOD=3.1), whose supporting interval overlaps a previous study in Finnish families, and identified an intergenic single nucleotide polymorphism (SNP) (rs1251078, p=8.4×10−17) near UGT8, a gene highly expressed in the central nervous system and known to act in brain organisation. In addition, a non-synonymous SNP in UGT8 was revealed to be highly associated with musical ability (rs4148254, p=8.0×10−17), and a 6.2 kb copy number loss near UGT8 showed a plausible association with musical ability (p=2.9×10−6).ConclusionsThis study provides new insight into the genetics of musical ability, exemplifying a methodology to assign functional significance to synonymous and non-coding alleles by integrating multiple experimental methods.

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“…From April to June 2006, a total of 2,008 participants for pulmonary function measurement were recruited in Dashbalbar, Dornod Province, Mongolia, as part of the GENDISCAN project [ 18 , 20 , 21 ], which was designed to identify genetic loci of complex traits in Asian populations. For this study, we selected 706 subjects from 72 large and extended pedigrees with complete genotyping.…”

Section: Methodsmentioning

confidence: 99%

Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia

Son

Sohn

et al. 2015

PLoS ONE

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The spirometric measurement of pulmonary function by measuring the forced expiratory volume in one second (FEV1) is a heritable trait that reflects the physiological condition of the lung and airways. Genome-wide linkage and association studies have identified a number of genes and genetic loci associated with pulmonary function. However, limited numbers of studies have been reported for Asian populations. In this study, we aimed to investigate genetic evidence of pulmonary function in a population in northeast Asia. We conducted a family-based association test with 706 GENDISCAN study participants from 72 Mongolian families to determine candidate genetic determinants of pulmonary function. For the replication, we chose seven candidate single nucleotide polymorphisms (SNPs) from the 5 loci, and tested 1062 SNPs for association with FEV1 from 2,729 subjects of the Korea Healthy Twin study. We identified TMEM132C as a potential candidate gene at 12q24.3, which is a previously reported locus of asthma and spirometric indices. We also found two adjacent candidate genes (UNC93A and TTLL2) in the 6q27 region, which has been previously identified as a pulmonary function locus in the Framingham cohort study. Our findings suggest that novel candidate genes (TMEM132C, UNC93A and TTLL2) in two different regions are associated with pulmonary function in a population in northeast Asia.

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Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population

Cited by 6 publications

References 33 publications

Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

Comprehensive genomic analyses associateUGT8variants with musical ability in a Mongolian population

Family-Based Association Study of Pulmonary Function in a Population in Northeast Asia

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