Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in North Indian Population

Background: In the hypothalam$c-p$tu$tary-gonadotroph$n (HPG) ax$s, estrogen plays a key role $n the bone maturat$on regulat$on and growth plates closure.Th$s study was des$gned to explore the l$nk between s$ngle nucleot$de polymorph$sms (SNPs) $n estrogen receptor 1 (ESR1) gene w$th dopath$c short stature (ISS) suscept$blty $n the North Ind$an populat$on.Methods: Four SNPs of the ESR1 gene (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequenc$ng $n 52 ISS pat$ents and 68 controls.L$nkage d$sequlbr$um (LD) and haplotyp$ng were done by SNPstat and SHESISplus softwares.Extent of LD was determ$ned by calculat$ng D′ and r 2 values $n SNPs pa$red comb$nat$ons.Results: A s$gn$f$cant pos$t$ve assoc$at$on was found between rs6557177 and rs543650 genotype and ISS suscept$blty as compared to controls.The frequenc$es of the rs6557177 CC genotype (p=0.030;OR=0.13; 95% CI:0.01-1.10)and rs543650 genotype TT (p =0.043; OR=0.29; 95% CI: 0.09-0.92)were observed to be $ncreased $n ISS group as compared w$th the control group.However, no s$gn$f$cant correlat$on was observed between clncal parameters of pat$ents and these SNPs.rs543650 shown strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799.Conclus9on: Our study showed that CC genotype at rs6557177 and TT genotype of rs543650 of ESR1 const$tutes r$sk factor for develop$ng ISS $n North Ind$an ch$ldren.In the future, these f$nd$ngs may lead to a better understand$ng of the SNPs assoc$ated w$th ISS suscept$blty.