Identification of five novel genetic loci related to facial morphology by genome-wide association studies

Cha, Seongwon; Lim, Ji Eun; Park, Ah Yeon; Do, Jun-Hyeong; Lee, Si Woo; Shin, Chol; Cho, Nam Han; Kang, Ji-One; Nam, Jeong Min; Kim, Jong-Sik; Woo, Kwang-Man; Lee, Seung-Hwan; Kim, Jong Yeol; Oh, Bermseok

doi:10.1186/s12864-018-4865-9

BMC Genomics

Table 1 Eighty-five facial traits from 23 frontal, 7 profile, and 16 upper eyelid points

From: Identification of five novel genetic loci related to facial morphology by genome-wide association studies

Size-related variables			Shape-related variables
	Abbreviation	Description		Abbreviation	Description
Face shape	(17 traits)
Width^a	zyR-zyL	Facial base width	Ratio	zyR-zyL/goR -goL	Facial width ratio of base to chin
	goR -goL	Lower facial width		zyR-zyL/n-sto	Facial ratio of base width to height
	obsR-obsL	Upper facial width		goR -goL/n-sto	Facial ratio of chin width to height
	obiR-obiL	Middle facial width
Height^b	sn-sto	Upper lip height	Angle^c	(A) enR-exR-goR	Right facial angle of en-ex-go
Height^b	n-sto	Facial height		(A) enL-exL-goL	Left facial angle of en-ex-go
Area	(AR) obsR-obsL-obiR-obiL	Upper facial area		(A) psR-exR-goR	Right facial angle of ps-ex-go
	(AR) obiR-obiL-goR -goL	Lower facial area		(A) psL-exL-goL	Left facial angle of ps-ex-go
				(A) enR-psR-goR	Right facial angle of en-ps-go
				(A) enL-psL-goL	Left facial angle of en-ps-go
Forehead	(10 traits)
Height^b	(V) tr-o	Forehead height	Angle^c	(A) m-tr	Upper forehead slant angle
	(V) m-o	Lower forehead height		(A) o-n	Brow ridge protrusion angle
	(V) tr-m	Upper forehead height	Ratio	mtro-o/t-o	Metopion position ratio
	(V) o-n	Brow ridge height	Depth	(H) tr-m	Upper forehead slant depth
				(H) o-n	Brow ridge protrusion
				m-mtro	Metopion eminence depth
Eye	(15 traits)
Width^a	enR-enL	Intercanthal width	Angle^c	(A) exR-psR	Right eye angle of ex-ps
	exR-exL	Outercanthal width		(A) exL-psL	Left eye angle of ex-ps
				(A) enR-psR	Right eye angle of en-ps
				(A) enL-psL	Left eye angle of en-ps
Height^b	psR-piR	Right palpebral fissure height		(A) enR-psR-exR	Right eye angle of en-ps-ex
Height^b	psL-piL	Left palpebral fissure height		(A) enL-psL-exL	Left eye angle of en-ps-ex
Length	enR-exR	Right palpebral fissure length	Length	psR-exR	Eye tail length
	enL-exL	Left palpebral fissure length	Ratio	psR-piR/enR-exR	Eye ratio of width to height
				(enR-exR + enL-exL)/zyR-zyL	Length ratio of eyes to face
Nose	(11 traits)
Width^a	sbalR-sbalL	Subnasal width	Angle^c	(A) prn-n	Nasal bridge angle
Height^b	(V) n -sn	Frontal nasal height		(A) prn-sn	Nasolabial angle
	n-sn	Profile nasal length		(A) n-prn-sn	Profile nasal angle
	(V) n-prn	Nasal bridge height
	(V) prn-sn	Nasal tip height
Depth	(H) n-prn	Nasal bridge depth
Depth	(H) prn-sn	Nasal tip protrusion
Area	(AR) n-prn-sn	Profile nasal area
Mouth	(2 traits)
Height^b	(V) cphR-sto	Right upper lip thickness
Height^b	(V) cphL-sto	Left upper lip thickness
Upper eyelid	(30 traits)
Width^a	(H) er1-ermax	Right eyelid peak width	Angle^c	(A) Tan_er1~ 7	Tangent line angle of er1 ~ er7
	(H) el1-elmax	Left eyelid peak width		(A) Tan_el1~ 7	Tangent line angle of el1 ~ el7
	(H) er1-er7	Right eyelid width	Ratio	(H) er1-ermax/(H) er1-er7	Right eyelid peak position ratio
	(H) el1-el7	Left eyelid width		(H) el1-elmax/(H) el1-el7	Left eyelid peak position ratio
				(V) er1-er7/(H) er1-er7	Right eyelid slant
				(V) el1-el7/(H) el1-el7	Left eyelid slant
				(V) er1-ermax/(H) er1-ermax	Right eyelid medial slant
				(V) el1-elmax/(H) el1-elmax	Left eyelid medial slant
				(V) ermax-er7/(H) ermax-er7	Right eyelid lateral slant
				(V) elmax- el7/(H) elmax- el7	Left eyelid lateral slant
			Curvature^d	(AC) er1-er7	Right eyelid average curvature
				(MC) er1-er7	Right eyelid maximal curvature
				(AC) el1-el7	Left eyelid average curvature
				(MC) el1-el7	Left eyelid maximal curvature

Trait abbreviations: cph crista philtri, el left upper eyelid, elmax left upper eyelid peak, en endocanthion, er right upper eyelid, ermax right upper eyelid peak, ex exocanthion, go gonion, m metopion, mtro metopion position on tr-o, n nasion, o ophryon, obi otobasion inferius, obs otobasion superius, pi palpebral inferius, prn pronasale, ps palpebral superius, sbal subalare, sn subnasale, sto stomion, tr trichion, zy zygion, (A) angle, (AC) average curvature, (AR) area, (H) horizontal, (MC) maximal curvature, (V) vertical
^aWidth refers to the horizontal distance between the two landmarks in a frontal (or lateral) image
^bHeight similarly refers to the vertical distance between the two landmarks in a frontal (or lateral) image
^cAngle refers to the angle made from the line through two landmarks and a horizontal line in a frontal (or lateral) image
^dCurvature indicates the radius of circle at a point n1 in a frontal upper eyelid

Back to article page

ISSN: 1471-2164

Contact us

Submission enquiries: bmcgenomics@biomedcentral.com
General enquiries: ORSupport@springernature.com