| Among many human genetic traits, height is a classic, highly heritable,multi-gene interacted phenotypic trait, and also a very important physiological indexfor human growth and development. Height is a complex and continuously variablequantitative trait commonly determined by genetic and environmental factors.So-called environmental factors include social environment, lifestyle, psychologicalfactors, nutrition, exercise and geographical environment. In addition, height alsovaries from race, ethnicity and geographic distribution. On the other hand, height isassociated with a number of complex diseases, such as diabetes, osteoporosis andcancer. Exploring genes associated with height will help to understand the geneticimpact on height and the mechanism of some complex height-related diseases, as well,provide a theoretical base for the prevention and treatment of these diseases.Currently, genome-wide association analysis brings a very good opportunity forgenetic studies of height. However, related research is mainly conducted in Caucasianpopulations, while there are few studies reported on Asian populations includingChinese. Determining whether a mutation is universal or only race-specific is ofsignificance fto explore the genetic mechanism of height. In general, Europeanpopulations have been widely studied on height-related genetic factors, and relatedgenetic loci are almost always firstly discovered and validated in Europeanpopulations. However, there are not many studies reported on Chinese populations,and there are no reports on two single nucleotide polymorphisms (SNPs)LHX3-QSOX2rs12338076and IGF1gene rs17032362involved in this study.Objective: To investigate genetic polymorphism of LHX3-QSOX2rs12338076and IGF1gene rs17032362in Xinjiang Uyghur population and their association withadult height.Methods:1027blood samples were collected from the healthy unrelated Uyghurindividuals in Xinjiang, among which there are608females and419males. Theaverage height of samples is165.83±8.82cm, weight56.06±10.60kg, and no specific genetic history has been reported. Human genomic DNA is extracted fromvein blood. Genotypes of two SNPs gene loci were determined by Matrix-AssistedLaser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF).Genetic diversities of the two SNP loci in the population were analyzed.Thecorrelation of genotype to adult height was analyzed using statistical methods.Results: The frequencies of genotype and alleles of the two SNPs wereobtained.The distributions of genotype and alleles fit with the Hardy-Weinbergequilibrium. Polymorphism analysis showed that:(1) The frequencies of three genotypes of LHX3-QSOX2gene rs12338076AA,AC and CC, are0.498,0.417, and0.086, respectively. The frequency of allele A(0.703) was higher than that of allele C (0.298). In the females, the frequency of alleleA (0.706) is slightly higher than that in the males (0.698), which is consistent with thedata reported in Japan population. The heterozygosity of rs12338076is0.775and itsindividual identification power is0.5719. Moreover, there are no significantdifferences at the frequencies of genotype and allele at SNP rs12338076among thesouthern, northern and eastern Xinjiang adult groups (P>0.05), but there are (P<0.01)significant difference between Xinjiang Uyghur population and South Korea,Sinhalese Ince in Sri Lanka and Oku Mahiro. Furthermore, there is no significantdifference between the Uyhgur and Japanese, German, Mongolian, Tibetan, andTurkey per capita (P>0.05).(2) The frequencies of three genotypes AA, AG and GGof IGF1gene rs17032362e are0.025,0.286, and0.689, respectively. Allele G hashigher frequency (0.832) than allele A (0.168). The frequency of allele G (0.849) inthe males is slightly higher than that in the females (0.820), which is also consistentwith studies in Japan population. The heterozygosity of rs17032362is0.5610and itsindividual identification power is0.4433. There are no no significant differences atthe frequencies of genotype and allele at SNP rs17032362loci of IGF1gene amongthe southern, northern and eastern Xinjiang adult groups. There are no significantdifference in the frequncies of genotype and allele at rs17032362between the Uyghur and Japan, South Korea,Mongolia,Tibetan, inslee Lanka Sinhalese people,or Germany,but the difference between the Uyghur and Turkey or Austrian Huambo is significant(P<0.01).(3) The analysis onrelationship of LHX3-QSOX2genes rs12338076with heightshowed that: there were no significant differences on the frequencies of genotype AA,AC and CC of LHX3-QSOX2gene’s rs12338076between the different age groups,different height groups, or weight groups (P>0.05). The frequences of genotype AA,AC and CC in the taller and shorter male subgroups were0.539,0.385,0.078and0.482,0.424,0.094, respectively. The differences at the three genotypes’frequencydistribution between the two groups were not statistically significant. The frequencesof genotype AA, AC and CC in the taller and shorter female subgroup were0.433,0.463,0.104and0.509,0.394,0.074, respectively. The differences at the threegenotypes’ distribution between the two groups were not statistical significance.(4) The analysis onrelationship of GF1gene’s rs17032362with height showedthat: there were no significant differences on the frequencies of genotype AA, AG andGG between the different age groups,different height groups, or weight groups(P>0.05). However, there are significant difference between AG gene type and height(P=0.040)., The frequences of genotypes AA, AG and GG in the the taller and shortermale subgroups were0.021,0.238,0.734and0.029,0.254,0.714, respectively. Thedifferences at the three genotypes’frequency distribution between the two groupswere not statistically significant. The frequences of genotype AA, AG and GG threekinds of genotype frequencies in the taller and shorter female subgroups were0.006,0.342,0.652and0.032,0.30,0.668, respectively. The differences at the threegenotypes’ distribution between the two groups were not statistical significance.Conclusion: We, for the first time, reported the polymorphisms ofLHX3-QSOX2gene rs12338076and IGF1gene rs17032362in Xinjiang Uyghurpopulation. Both rs12338076and rs17032362are polymorphic in Xinjiang Uyghur,indicating they are able to be used in individual identification and population geneticstudy. We demonstrated that both rs12338076and rs17032362are not associated withadult height in Xinjiang Uyghur, which differs to Japanese population. |
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