The correlation between growth hormone receptor (GHR) polymorphism and obstructive sleep apnea syndrome among the Han and Hani population in China
Obstructive sleep apnea syndrome (OSAS) is a common health problem that is associated with abnormality in craniofacial morphology. The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates the majority of growth hormone signaling, which, among other functions, determines mandibular growth and development. The aim of this study was to determine if correlations exist between single nucleotide polymorphisms (SNPs) in the GHR gene and OSAS in the Han or Hani ethnic groups in China. A total of 274 Han subjects (106 with OSAS and 168 without OSAS) and a total of 270 Hani subjects (64 with OSAS and 206 without OSAS) were enrolled in our study. Genomic DNA was extracted from peripheral blood obtained from all subjects. Genotyping was undertaken for eight SNPs in the GHR gene (rs3756416, rs7727047, rs2910875, rs12153009, rs2972781, rs12518414, rs4410646, and rs6451620) using PCR amplification and Sanger sequencing. The genotype frequency of rs12518414 was associated with OSAS in both the Han and Hani groups, and the A allele frequency was remarkably lower in Hani OSAS patients compared with Hani controls (16.7 vs 29.9%). In addition, the G allele frequency of the rs3756416 SNP was significantly lower in OSAS patients compared with normal controls in the Hani ethnic group (12.5 vs 24.6%). In a comparison between ethnic groups, genotype frequencies of four SNPs (rs2972781, rs6451620, rs12518414, and rs7727047) differed between Han and Hani OSAS patients, with the A allele frequency of the rs12518414 and G allele frequency of the rs7727047 were significantly higher in the Han OSAS patients. In conclusion, significant associations were detected between some SNPs in the GHR gene and OSAS occurrence while others appeared to be ethnicity-dependent.
KeywordsGrowth hormone receptor Obstructive sleep apnea syndrome Single nucleotide polymorphism Mandible
Compliance with ethical standards
The authors declare that they have no competing interests.
- 2.Park CY, Hong JH, Lee JH, Lee KE, Cho HS, Lim SJ, Kwak JW, Kim KS, Kim HJ (2014) Clinical effect of surgical correction for nasal pathology on the treatment of obstructive sleep apnea syndrome. PLoS One 9(6):e98765. https://doi.org/10.1371/journal.pone.0098765 CrossRefPubMedPubMedCentralGoogle Scholar
- 5.Driessen C, Joosten KF, Bannink N, Bredero-Boelhouwer HH, Hoeve HL, Wolvius EB, Rizopoulos D, Mathijssen IM (2013) How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study. Arch Dis Child 98(7):538–543. https://doi.org/10.1136/archdischild-2012-302745 CrossRefPubMedGoogle Scholar
- 6.Sato K, Shirakawa T, Sakata H, Asanuma S (2012) Effectiveness of the analysis of craniofacial morphology and pharyngeal airway morphology in the treatment of children with obstructive sleep apnoea syndrome. Dentomaxillofac Radiol 41(5):411–416. https://doi.org/10.1259/dmfr/28710443 CrossRefPubMedPubMedCentralGoogle Scholar
- 10.Park SW, Lee ST, Sohn YB, Kim SH, Cho SY, Ko AR, Ji ST, Kwon JY, Yeau S, Paik KH, Kim JW, Jin DK (2011) A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome. Am J Med Genet A 155a(12):2970–2973. https://doi.org/10.1002/ajmg.a.34309 CrossRefPubMedGoogle Scholar
- 12.Chi X, Wei X, Gao W, Guan J, Yu X, Wang Y, Li X, Cai J (2015) Dexmedetomidine ameliorates acute lung injury following orthotopic autologous liver transplantation in rats probably by inhibiting toll-like receptor 4-nuclear factor kappa B signaling. J Transl Med 13:190. https://doi.org/10.1186/s12967-015-0554-5 CrossRefPubMedPubMedCentralGoogle Scholar
- 16.Tomoyasu Y, Yamaguchi T, Tajima A, Nakajima T, Inoue I, Maki K (2009) Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. Am J Orthod Dentofac Orthop 136(4):536–541. https://doi.org/10.1016/j.ajodo.2007.10.054 CrossRefGoogle Scholar