title: Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case-control study in three ethnic groups from North-West India.
abstract: Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but show ethnicity-specific differences. The pathogenesis of T2D involves genetic variants in the candidate genes. The interactions between the genes involved in insulin signaling and secretory pathways are believed to play an important role in determining an individual's susceptibility towards T2D. Therefore, the present study was initiated to examine the differences, if any, in the contribution of polymorphisms towards T2D susceptibility in the background of different ethnic specifications. The present case-control study included a total of 1216 T2D cases and healthy controls from three ethnic groups (Jat Sikhs, Banias and Brahmins) of North-West India. Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method. Statistical analysis was done using SPSS 16.0. The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. Furthermore, interaction analyses indicated the cumulative role of three genetic variants in modulating T2D susceptibility in the three ethnic groups. In conclusion, our results substantiated the evidences for the role of ethnicity in differential susceptibility to T2D in the background of same genetic variants.
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. jasminesokhi47@gmail.com.
authors.forename: Jasmine
authors.initials: J
authors.lastname: Sokhi
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. ruhisikka@gmail.com.
authors.forename: Ruhi
authors.initials: R
authors.lastname: Sikka
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. priyankaraina10@gmail.com.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Raina
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. ramandeepkaur0609@gmail.com.
authors.forename: Ramandeep
authors.initials: R
authors.lastname: Kaur
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. matharookawal@gmail.com.
authors.forename: Kawaljit
authors.initials: K
authors.lastname: Matharoo
authors.affiliation: Diabetic Clinic and Research Institute, 171, Green Avenue, Amritsar, 143001, Punjab, India. punit26@gmail.com.
authors.forename: Punit
authors.initials: P
authors.lastname: Arora
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143 005, Punjab, India. ajsbhanwer@gmail.com.
authors.forename: Ajs
authors.initials: A
authors.lastname: Bhanwer
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics; D011972:Receptor, Insulin / Q000235:genetics*; D012306:Risk
chemical_list: D015703:Antigens, CD; C435941:INSR protein, human; D011972:Receptor, Insulin
keywords: Ethnicity; INS; INSR; North-West India; PP1G.G; Type 2 diabetes