Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population

Growth hormone receptor gene variant and three-dimensional mandibular morphology

“…In previous reports concerning the relationship between GHR gene variants and mandibular morphology, analysis by twodimensional lateral cephalograms [13][14][15][16][17][18] revealed relationships between mandibular ramus length and variants rs6184 and rs6182. 13,16 However, owing to the complex structure of the mandible, two-dimensional evaluation using cephalograms cannot be used for precise measurement of the mandible. 19 In the present study, we examined the association between the actual length of the mandibular bone and GHR gene variants using three-dimensional analysis.…”

“…19 In the present study, we examined the association between the actual length of the mandibular bone and GHR gene variants using three-dimensional analysis. In previous reports, GHR gene SNPs (rs6180, rs6182, and rs6184) were described to be related to mandibular morphology, [13][14][15][16][17][18] with SNPs rs6182 and rs6184 in complete linkage disequilibrium. In this study, we examined two SNPs (rs6180 and rs6184).…”

“…[13][14][15] Mandibular ramus length was significantly shorter in a Japanese population with genotype CC of variants rs6184 or genotype GG of rs6182. 16 Furthermore, a relationship between the rs6180 variant and mandibular ramus length has been reported in a Chinese population. 17 In young Japanese children, the rs6184 variant of the GHR gene has an inhibitory effect on mandibular growth.…”

“…17 In young Japanese children, the rs6184 variant of the GHR gene has an inhibitory effect on mandibular growth. 18 Previous studies examining the relationship between craniofacial morphology and GHR [13][14][15][16][17][18] have used lateral cephalograms to measure craniofacial morphology. However, there are limitations associated with the application of two-dimensional data from lateral cephalograms to the evaluation of craniofacial morphology, which has a complex structure.…”

A comparative study of craniofacial measurements between Ryukyuan and mainland Japanese females using lateral cephalometric images

“…An association study focusing on 10 candidate SNPs shows that one SNP in interferon regulatory factor 6 (IRF6), which is known as a risk factor for nonsyndromic cleft lips/palates, affects normal variation in lip shape in Han Chinese females (Peng et al, 2013). Additionally, growth hormone receptor (GHR) polymorphisms are reportedly associated with mandibular ramus height (Yamaguchi et al, 2001;Tomoyasu et al, 2009). These polymorphisms may be involved in the variation in the shapes of lips and mandibles that we documented in this study.…”