Avasthi Kapil Kumar, Agarwal Amit, Agarwal Sarita
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India.
Department of Burn and Plastic Surgery, Vivekananda Polyclinic and Institute of Medical Sciences (VPIMS), Lucknow 226007, India.
Avicenna J Med Biotechnol. 2022 Apr-Jun;14(2):175-180. doi: 10.18502/ajmb.v14i2.8879.
Non-Syndromic Cleft Lip and Palate (NSCL/P) is a multifactorial birth defect. The world-wide prevalence of NSCL/P is 1 in 1000 live births; it differs with race, ethnicity and gender. The aim of the present study was to find out the status of candidate gene polymorphisms in NSCL/P cases and its association in phenotype of the patients.
We have screened five polymorphisms in four candidate genes (rs1801133, rs1801131) (rs17563), (rs1146297) and (rs2235371) by restriction fragment length polymorphism and results were validated by Sanger sequencing. Our dataset consists of 200 NSCL/P cases and 200 healthy controls from the Indian population. Statistical data analysis was performed by SPSS software.
(rs1801133), (rs175563) and (rs11466297) gene polymorphisms showed significant association with NSCL/P and act as a risk factor in the Indian population (p=<0.05). However, (rs1801131), and (rs2235371) gene polymorphisms did not show significant association with NSCL/P in the Indian population.
The result of the study suggests an association between (rs1801133), (rs175563) and (rs11466297) polymorphisms with NSCL/P in Indian population.
非综合征性唇腭裂（NSCL/P）是一种多因素导致的出生缺陷。全球范围内NSCL/P的患病率为每1000例活产中有1例；其患病率因种族、民族和性别而异。本研究的目的是了解NSCL/P病例中候选基因多态性的状况及其与患者表型的关联。
我们通过限制性片段长度多态性筛选了四个候选基因中的五个多态性（rs1801133、rs1801131）、（rs17563）、（rs1146297）和（rs2235371），并通过桑格测序验证结果。我们的数据集包括来自印度人群的200例NSCL/P病例和200名健康对照。使用SPSS软件进行统计数据分析。
（rs1801133）、（rs175563）和（rs11466297）基因多态性与NSCL/P显示出显著关联，并在印度人群中作为危险因素（p =<0.05）。然而，（rs1801131）和（rs2235371）基因多态性在印度人群中与NSCL/P未显示出显著关联。
研究结果表明（rs1801133）、（rs175563）和（rs11466297）多态性与印度人群中的NSCL/P之间存在关联。
