El-Akawi et al. (2006) studied Alpha-1 Antitrypsin genotypes in paraffin embedded tissue blocks from 100 patients with lung carcinoma.  PCR-RFLP analysis showed that all tested samples from these patients were homozygous for the M allele, while no Z or S alleles were detected.  Later, El-Akawi et al., (2008) studied the serum levels of alpha1-AT in lung, prostate and breast cancer patients compared to a control group.  Lung and prostate cancer patients have shown a significant elevation in alpha1-AT serum levels compared with those of healthy controls (P-value = 0,0001, 0,003 respectively), while breast cancer patients did not show a significant change in these levels. Serum levels of alpha1-AT were 261.7 +/- 107.26, 222.7 +/- 87.30, and 183.8 +/- 45.05 mg/dl of lung, prostate and breast cancer patients, respectively, while those of healthy controls were 163.9 +/- 23.2 mg/dl in males and 186.13 +/- 39.81 mg/dl in females.  El-Akawi et al. (2008) indicated that alpha1-AT plasma levels might be an alarming factor to be considered in the diagnosis as well as in the follow up of cancer cases.

In 1989, El Shirbiny performed a study to determine the levels of serum alpha-1-apantitrypsin [alpha 1AT] and the phenotypes of protease inhibitor [PI] in asthmatic patients and healthy controls. The M "normal" phenotype was less frequent in patients with bronchial asthma (82%) than in non-asthmatic controls (98%). On the other hand the Z phenotype, which is linked to severe alpha 1AT deficiency, was far more prevalent in the patients group (10%) than in the controls (2%). Upon clinical investigation of patients with the M or Z phenotypes, no significant relationships could be detected between these phenotypes and the following clinical parameters; type of asthma, severity of the disease, steroid dependency, smoking habits or age at onset. Still the higher frequency of deficient phenotypes in the asthmatic group may indicate a certain degree of causality that is made conspicuous by the harsh environmental conditions in Kuwait.

[El Shirbiny AF. Alpha-1-antitrypsin variants in bronchial asthma in Kuwait. Med Princ Pract. 1989; 1(2): 105-11]

Samilchuk et al. (1997) studied the frequency of the Taq1 polymorphism in the 3' flanking region of the PI gene in 117 Kuwaiti Arabs (native Kuwaitis and Bedouins) and 110 Russians who were randomly selected, using PCR/RFLP. Sixty-nine of the Kuwaiti individuals were found to be homozygous for the wild-type allele, 41 heterozygous and 7 homozygous for the G>A mutation and the corresponding numbers for Russians were 104, 6 and 0, respectively. Based on these genotype analyses, the frequency of this polymorphism was found to be 0.235 in the Arabs and 0.027 in the Russians. Samilchuk et al. suggested that such a striking difference in allele frequencies could be due to a 'founder effect' in the Kuwaiti population or it may also be that this mutation provides a selective advantage, thus, accounting for its fixation at a rather high frequency in some populations. The results of this study led Samilchuk et al. to suggest that ethnic composition is a very important factor which should be taken into consideration when studying the association of the Taq1 polymorphism with chronic obstructive pulmonary disease (COPD).

Ezzikouri et al. (2008) studied the effect of hereditary hemochromatosis and SERPINA1 mutation on liver functions and assess their influence on hepatocellular carcinoma development. The study included 222 controls and 96 cases with hepatocellular carcinoma and this demonstrated that SERPINA1 mutations seem not to contribute to hepatocellular carcinoma development.

Aljarallah et al. (2011) recruited 158 individuals from primary care clinic in Qassim University medical center in order to determine the frequency of AAT mutations in two alleles; PI*Z and PI*S in healthy Saudi individuals from Qassim area.  The genotype was determined by polymerase chain reaction.  Aljarallah et al. (2011) found that 11.39% of participants were carriers for mutant S allele, 2.53% were carriers for the mutant Z allele.  The ZZ genotype was not detected in this cohort.  He concluded that the frequency of the mutant S and Z alleles of AAT gene was relatively high in the Saudi population; 9.49% and 3.19%, respectively.  This warrants screening modality for at- risk members to alleviate the risk for AAT deficiency and potential risk of liver dysfunction.