Xiong Y, Zhong M, Chen J, Yan Y L, Lin X F, Li X
Department of Obstetrics and Gynecology, Nanfang Hospital of Southern Medical University, Guangzhou, China.
Prenatal Diagnosis Center, Boai Hospital of Zhongshan of Southern Medical University, Zhongshan, China.
Genet Mol Res. 2017 Feb 8;16(1):gmr-16-01-gmr.16019165. doi: 10.4238/gmr16019165.
Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal recessive nonsyndromic hearing loss. Its 235delC and 30-35delG polymorphisms are reported to be associated with risk of hereditary deafness. However, the effect of the interaction between GJB2 235delC and 30-35delG and environmental factors on congenital deafness has not been described. Therefore, we performed a case-control study to investigate the influence of these polymorphisms on congenital deafness risk, and their interaction with maternal and other environmental factors in the development of this disease. Between March 2014 and May 2015, 118 patients with congenital deafness and 242 healthy controls were enrolled into our study. Compared with the GG genotype, the adjusted odds ratios (ORs) [and 95% confidence intervals (CIs)] for the 235delC GC and CC genotypes were 4.66 (1.77-13.07) and 8.28 (2.06-47.52), respectively. Individuals harboring the GC+CC genotypes were at a greatly increased risk of congenital deafness compared to those with the GG genotype (OR = 5.65, 95%CI = 2.54-13.18). However, no significant relationship was established between the 30-35delG variant and this disease. The 235delC polymorphism exhibited an interaction with use of aminoglycoside antibiotics during pregnancy in conferring susceptibility to congenital deafness (chi-square = 8.76, P = 0.003). In conclusion, our study suggests that the GJB2 235delC polymorphism, but not the 30-35delG variant, contributes to congenital deafness susceptibility in the Chinese population examined, and demonstrates an interaction with consumption of aminoglycoside antibiotics during pregnancy in exerting this effect.
先天性耳聋在人类中是一种严重且不可逆的病症。GJB2基因与常染色体隐性非综合征性听力损失的发病机制有关。据报道，其235delC和30 - 35delG多态性与遗传性耳聋风险相关。然而，GJB2 235delC和30 - 35delG与环境因素之间的相互作用对先天性耳聋的影响尚未见描述。因此，我们进行了一项病例对照研究，以调查这些多态性对先天性耳聋风险的影响，以及它们在该疾病发生过程中与母亲及其他环境因素的相互作用。在2014年3月至2015年5月期间，118例先天性耳聋患者和242名健康对照被纳入我们的研究。与GG基因型相比，235delC的GC和CC基因型的校正比值比（OR）[及95%置信区间（CI）]分别为4.66（1.77 - 13.07）和8.28（2.06 - 47.52）。与GG基因型个体相比，携带GC + CC基因型的个体患先天性耳聋的风险大幅增加（OR = 5.65，95%CI = 2.54 - 13.18）。然而，30 - 35delG变异与该疾病之间未建立显著关系。235delC多态性在孕期使用氨基糖苷类抗生素时与先天性耳聋易感性存在相互作用（卡方 = 8.76，P = 0.003）。总之，我们的研究表明，在所研究的中国人群中，GJB2 235delC多态性而非30 - 35delG变异导致先天性耳聋易感性，并表明在孕期使用氨基糖苷类抗生素时二者存在相互作用以发挥这种影响。
